Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Microcephaly, Co... |
OMIM:619343 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
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 |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Miller-Dieker syndrome (MDS) |
|
Frontal bossing, Microcephaly, Abnormal heart morphology, Lissencephaly, Midface retrusion |
DECIPHER:21 |
Isolated Dandy-Walker Malformation |
|
Frontal bossing, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Plat... |
ORPHA:217 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
Birk-Aharoni Syndrome |
|
Microcephaly, Micrognathia, Muscular ventricular septal defect, Dolichocephaly, Midface retrusion |
OMIM:620071 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... |
ORPHA:79397 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Micrognathia, Microcephaly, Patent ductus arteriosus,... |
ORPHA:3304 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Macrocephaly, Notched primary central incisor, Muscular ventricular septal defect, Microcephaly |
OMIM:620062 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Microcephaly, Carious teeth, Abnormal aortic arch morpho... |
ORPHA:1110 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... |
OMIM:179613 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Ritscher-Schinzel Syndrome 1 |
|
Dandy-Walker malformation, Ventricular septal defect, Micrognathia, Missing ribs, Brachycephaly, ... |
OMIM:220210 |
Chromosome 15Q25 Deletion Syndrome |
|
Flat occiput, Ventricular septal defect, Dextrocardia, Tented upper lip vermilion, Cleft upper li... |
OMIM:614294 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Perimembranous ventricular septal defect, Periventricular leukomalacia, Cardiomegaly |
OMIM:619170 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Houge-Janssens Syndrome 3 |
|
Frontal bossing, Microcephaly, Muscular ventricular septal defect, Plagiocephaly, Hypoplasia of t... |
OMIM:618354 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short toe, Pierre-Robin sequence, An... |
OMIM:617877 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral calcifi... |
OMIM:620024 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hi... |
ORPHA:294975 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Muscular ventricular sep... |
ORPHA:363444 |
Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Macrocephaly, Thin corpus callosum, Perimembranous ventricular septal defect, Hi... |
OMIM:618205 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscula... |
OMIM:620070 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Microcephaly, Orofacial cleft |
ORPHA:3434 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... |
OMIM:620135 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnorma... |
ORPHA:1919 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Palmoplanta... |
ORPHA:2890 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Brachycephaly, High palate, Transposition ... |
ORPHA:1913 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmoplantar keratoderma, Fi... |
ORPHA:2251 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Microcephaly, Cleft palate, Tooth agenesis, Abnormal aor... |
ORPHA:1166 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate, Micrognathia |
OMIM:615731 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal ph... |
OMIM:311895 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... |
ORPHA:477817 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmop... |
ORPHA:79395 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... |
OMIM:601322 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Erythrokeratodermia Variabilis |
|
Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperker... |
ORPHA:317 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recu... |
ORPHA:36382 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, na... |
OMIM:158170 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Scalin... |
OMIM:618373 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Apert Syndrome |
|
Mandibular prognathia, Brachycephaly, Agenesis of corpus callosum, Bifid uvula, Overriding aorta,... |
OMIM:101200 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Macroglos... |
OMIM:617022 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate... |
OMIM:619227 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Secondary microce... |
OMIM:614326 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
Classic Mycosis Fungoides |
|
Alopecia, Erythema, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Irregular hyperpigmen... |
ORPHA:2584 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Microcephaly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Abnormal palate morpho... |
ORPHA:1277 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent... |
OMIM:619657 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, Dry skin |
OMIM:106750 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Cleft palate, Hydranencephaly, Truncus arteriosus, Short... |
OMIM:601355 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Sotos Syndrome |
|
Mandibular prognathia, Frontal bossing, Ventricular septal defect, High, narrow palate, Muscular ... |
OMIM:117550 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis,... |
ORPHA:525 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Microcephaly, Esophageal atresia, Abnormal heart morphol... |
ORPHA:2209 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism |
ORPHA:2786 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Pulmonary hyp... |
OMIM:613124 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, High, narrow palate, Cleft palate, Abnorma... |
ORPHA:2516 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Tetralogy Of Fallot |
|
Thin vermilion border, Tetralogy of Fallot, Dolichocephaly |
ORPHA:3303 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar... |
ORPHA:261120 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... |
OMIM:614249 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Open bite, Macrocephaly, High palate, Dolichocephaly, Trigonocephaly, Midf... |
ORPHA:168624 |
Pentasomy X |
|
Micrognathia, Microcephaly, Patent ductus arteriosus, Small hand, Plagiocephaly, Short foot, Abno... |
ORPHA:11 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atrial septal defect, Malar ... |
ORPHA:1388 |
Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Micrognathia, Microcephaly, Cleft lip, Cleft palate, C... |
OMIM:301022 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
Diabetic Embryopathy |
|
Frontal bossing, Ventricular septal defect, Micrognathia, Microcephaly, Cleft palate, Aplasia/Hyp... |
ORPHA:1926 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia o... |
ORPHA:2476 |
Thomas Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Dolichocephaly |
ORPHA:3316 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... |
OMIM:608227 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Sc... |
ORPHA:2269 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... |
OMIM:605376 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, P... |
OMIM:612561 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Microcephaly, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Cleft palate, Hypoplastic left heart, Tran... |
ORPHA:1727 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... |
OMIM:604536 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... |
OMIM:618316 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Thick lower lip vermilion, High... |
OMIM:612946 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Tetra... |
ORPHA:276422 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Micro... |
OMIM:301043 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... |
OMIM:612843 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Hypointensity of cerebral white matter on MRI, Microcepha... |
ORPHA:46 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Protruding tongue, Diastema, Absent frontal sin... |
OMIM:301040 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ... |
ORPHA:100976 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes... |
ORPHA:2631 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip... |
ORPHA:2001 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha... |
ORPHA:391641 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Frontal bossing, Secondary microcephaly, Cleft palate, Abnormal heart morphology |
ORPHA:231147 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Microcephaly, Patent ductus art... |
OMIM:618142 |
Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Proboscis... |
OMIM:619895 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Microcephaly, Patent ductus arteriosus, Scaphocephaly, Cranial asym... |
OMIM:614886 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Microcephaly, Short thumb, Muscular ventricular septal defect, Dysplastic corpus c... |
OMIM:618569 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Microcephaly, Cleft palate... |
OMIM:309801 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, Cleft pala... |
ORPHA:398156 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Miss... |
ORPHA:3186 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio... |
OMIM:600001 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Microcephaly |
ORPHA:2515 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Brachycep... |
OMIM:218350 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail |
ORPHA:384 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ... |
OMIM:241310 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Secundum atrial septal defect, Micrognathia, Cerebral atrophy, Progressive mic... |
OMIM:608779 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum |
OMIM:611867 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... |
OMIM:605676 |
Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia, C... |
OMIM:617194 |
15Q11.2 Microdeletion Syndrome |
|
Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarct... |
ORPHA:261183 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
German Syndrome |
|
Micrognathia, Brachycephaly, Orofacial cleft, Abnormal cardiac septum morphology, High palate, Ev... |
ORPHA:2077 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Microcephaly, Wide mouth, Delayed eruption of... |
OMIM:618506 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, P... |
OMIM:618330 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Microcephaly, Midface retrusion, Abnormal heart morphology |
DECIPHER:52 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Microcephaly, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border... |
OMIM:615502 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Craniosynostosis, Microcephaly, Megarectum, Ma... |
OMIM:301056 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... |
OMIM:249670 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Intraventri... |
ORPHA:169805 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ... |
ORPHA:1027 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Brachycephaly, Widely spaced teeth, H... |
OMIM:612474 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing enteropathy, L... |
OMIM:608104 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... |
OMIM:227500 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Lujan-Fryns Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Brachycep... |
ORPHA:776 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina... |
OMIM:270100 |
Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Necrotizing enterocolitis, Microcephaly, Cerebral atrophy... |
OMIM:606812 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... |
OMIM:616652 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect, Micrognathia |
OMIM:243440 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Brachycephaly, Short foot, Everted lower lip vermilion, Narrow mouth, ... |
ORPHA:228399 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Hypoplastic pulm... |
OMIM:618021 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Ma... |
ORPHA:1777 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia |
OMIM:249710 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short palm, Microretrognathia, Bicuspid aortic v... |
ORPHA:508498 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Micrognathia, Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate |
ORPHA:1695 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Alg12-Cdg |
|
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Muscular ventricular septal defec... |
ORPHA:79324 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Hydrocephalus, Pallor |
ORPHA:163596 |
Rhizomelic Syndrome |
|
Microcephaly, Rhizomelia, Pulmonic stenosis, Micrognathia |
OMIM:268250 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Micrognathia, Short thumb, Macrocephaly, Plagiocephaly, Short 5th finger, Long philtr... |
OMIM:618821 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes |
ORPHA:3363 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Pulmonary artery atr... |
ORPHA:401935 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Multiple suture craniosynostosis, Broad secondary alveolar ridge, High... |
ORPHA:3369 |
Halperin-Birk Syndrome |
|
Micrognathia, Perimembranous ventricular septal defect, Thick vermilion border, High palate, Agen... |
OMIM:618651 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Micrognathia, Mitral valve prolapse, High palat... |
ORPHA:228410 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Cleft lip, Short metatarsal, Cleft palate, A... |
ORPHA:217017 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Premature loss of primary teeth, Microcephaly, Brachycephaly, Widely spaced teet... |
OMIM:617364 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria |
ORPHA:178377 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr... |
OMIM:618535 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret... |
ORPHA:2521 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Micrognathia, Microcephaly, Wide mouth, Left ventricular noncompaction, Hypertrophic cardiomyopat... |
OMIM:617228 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... |
ORPHA:136 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth... |
OMIM:612938 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Microcephaly, Cerebral dysmyelination, High, narrow palate, Velopharyngeal insu... |
OMIM:201550 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Small hand, Brachycephaly, Downturned corne... |
OMIM:300590 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microcephaly, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Centrifugal Lipodystrophy |
|
Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Short stature |
ORPHA:1705 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:1908 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Microcephaly, Cleft palate, Short philtr... |
ORPHA:261190 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Cerebral calcification, Micrognathia, H... |
ORPHA:2780 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolys... |
ORPHA:449285 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Ventricular septal defect, Rhizomelia, Micrognathia, Downturne... |
ORPHA:93267 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ... |
ORPHA:978 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla... |
OMIM:619142 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Syndactyly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... |
OMIM:202400 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... |
ORPHA:79 |
Dermatopathia Pigmentosa Reticularis |
|
Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:125595 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm |
ORPHA:79094 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, Furrowed tongue, High palate, Short philtrum, Everted ... |
ORPHA:1387 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... |
ORPHA:2326 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Short middle phalanx of the ... |
OMIM:190685 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:242100 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor |
OMIM:613561 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Hypoplasia of the corpus callosum, Dy... |
OMIM:300958 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, S... |
OMIM:617808 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lower lip vermil... |
OMIM:616789 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Cerebellar vermis hypop... |
OMIM:619720 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:1665 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Bicuspid aortic valve, Mitral atresia, Abnormality of the... |
ORPHA:1596 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles |
OMIM:601706 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Ventricular septa... |
ORPHA:435638 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Scaph... |
OMIM:619149 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Bicuspid aortic valve, Microcephaly, Brachycephaly, Macro... |
OMIM:619721 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Aortic isthmus hyp... |
OMIM:180849 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Oligohydramnios, Cutaneous ... |
OMIM:236500 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypoplasia of the pons,... |
ORPHA:163956 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Micrognathia, Secundum atrial ... |
OMIM:249420 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microcephaly, Cleft upper lip, Cleft palate, High palate |
OMIM:609654 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Mitral valve prolapse, Coarctati... |
ORPHA:371428 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Abnorma... |
OMIM:300845 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Atrial septal defect, Cerebellar vermis hypoplasia, Sagittal craniosynosto... |
ORPHA:459061 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Microcephaly, Malabsorption, Multiple muscular ventri... |
OMIM:615508 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Abnorma... |
ORPHA:500159 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pulmonary valve morphology, Optic nerve hypoplasia, Thick lowe... |
ORPHA:137634 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Microcephaly, Velopharyngeal insufficienc... |
OMIM:613680 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Orthokeratosis |
OMIM:607936 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ... |
OMIM:210710 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... |
OMIM:619910 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Reduced cerebral white matter volume, Brachycephaly, Short philtrum, Widely spaced teeth, Cleft l... |
OMIM:280000 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Polydactyly |
OMIM:615993 |
8P23.1 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic car... |
ORPHA:251071 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Microcephaly, Cleft palate, Abnormal heart morphology, Short 5th f... |
OMIM:239800 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Pulmonary hypoplasia, Talipes equinov... |
OMIM:616531 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Absent septum pellucidum, Protruding tongue, Microcephaly, Brachycephaly, Conotrunc... |
ORPHA:96147 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Atrial s... |
OMIM:300887 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Prune1-Related Neurological Syndrome |
|
Micrognathia, Microcephaly, Cerebral atrophy, Plagiocephaly, Tongue fasciculations, Hypertrophic ... |
ORPHA:544469 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Parietal foramina, Cleft lip, Cleft palate, Encephalomalacia, Short clavicles, ... |
ORPHA:60015 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Absent septu... |
OMIM:601357 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Ventricular septal defect, Microcephaly, Brachycephaly, High palate, Short philt... |
ORPHA:3306 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Microcephaly, Deep philtrum, Orofacial cleft, Plagiocephaly... |
ORPHA:77300 |
Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula |
OMIM:617768 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma... |
OMIM:256050 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Microcephaly, Brachycephaly, Macrocephaly, High palate, ... |
OMIM:618798 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Flat occiput, Micrognathia, Microcephaly, Brachycephaly, Downturned cor... |
OMIM:613792 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hai... |
OMIM:607626 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Microcephaly, Esophageal atresia, ... |
OMIM:610536 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Pierre-Robin sequence, Small hand... |
OMIM:619980 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab... |
ORPHA:2930 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglion... |
OMIM:174300 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Micrognathia, Microcephaly, Brachycephaly, Thin corpus callosum, Prog... |
OMIM:620240 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arteri... |
OMIM:619003 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Microcephaly, Abnormal cardiac ventricle morphology, Patent ... |
ORPHA:2306 |
Sézary Syndrome |
|
Alopecia, Palmoplantar keratoderma, Nail dystrophy, Irregular hyperpigmentation, Dry skin |
ORPHA:3162 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Tooth agenesis, Microcephaly, Bacterial endocarditis, Micrognathia |
ORPHA:1964 |
Pontocerebellar Hypoplasia, Type 3 |
|
Reduced cerebral white matter volume, Hypoplasia of the pons, High, narrow palate, Brachycephaly,... |
OMIM:608027 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Sagittal craniosynostosis, ... |
OMIM:616901 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Microcephaly, Carious teeth, Muscular ventricular s... |
OMIM:278250 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polyhydramnios, Postaxial polydactyly, Short long bone, Brachyd... |
OMIM:615633 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Microcephaly |
ORPHA:3033 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Sparse ... |
ORPHA:659 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... |
ORPHA:90065 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Brachycephaly, Downturned corner... |
OMIM:617752 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Cleft palate, Plagiocephaly, Hi... |
OMIM:618603 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Micrognathia, Megalencephaly, Short thumb, Microcephaly, Brachycephaly, Cleft pa... |
OMIM:600325 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorption, Microcephaly, Pate... |
ORPHA:452 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Periphera... |
OMIM:614749 |
Lambotte Syndrome |
|
Microcephaly, Retrognathia, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
6Q25 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Cleft palate, Plagiocephaly, High palate, Long philtrum, Malar flatte... |
ORPHA:251056 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palat... |
OMIM:192430 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Subdural hemorrhage, A... |
OMIM:618291 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Non-midline cleft lip, Cleft palate, Bipari... |
ORPHA:1915 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkled skin,... |
ORPHA:3051 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th... |
OMIM:608572 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:79394 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Hypoplasia of the corpus callosum, Cleft palate, Coarctation of aorta |
OMIM:620210 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
3C Syndrome |
|
Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Aplasia/... |
ORPHA:7 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, Lobulated tongue, Retrogn... |
OMIM:614815 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Pat... |
OMIM:617751 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar... |
OMIM:214800 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... |
OMIM:300855 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, Microcephaly, Abn... |
ORPHA:238769 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Dental crowding, Brachycephaly, Cerebral atrophy, Mitral valve prolapse, High pa... |
OMIM:615539 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Micrognathia, Microcephaly, Pyloric stenosis, Retrognathia, Cleft palat... |
ORPHA:83617 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus call... |
OMIM:618577 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft pal... |
ORPHA:79113 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum, High palate, Hypodontia, ... |
OMIM:616854 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Micrognathia, Microcephaly, Abnormality of the tongue, Cleft palate, High palate, Pul... |
ORPHA:3098 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Ascending aorta hypoplasia, Deep philtrum, ... |
OMIM:619503 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Cerebral atrophy, Suprav... |
OMIM:618164 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Patent ductus arteriosus, Brachycephaly, Narrow palate, Cleft palate, Pulmonic stenosi... |
OMIM:618223 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Oligodontia, Thin vermi... |
ORPHA:251019 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... |
ORPHA:1120 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Submucous cleft ha... |
OMIM:222765 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... |
OMIM:607823 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Menkes Disease |
|
Alopecia, Brittle hair, Cutis laxa, Sparse hair, Hypopigmentation of the skin |
OMIM:309400 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect... |
OMIM:612582 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neona... |
OMIM:614096 |
Verheij Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Cleft ... |
OMIM:615583 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosu... |
ORPHA:1790 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... |
OMIM:601349 |
Stickler Syndrome, Type Ii |
|
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Midface retrusion, Malar ... |
OMIM:604841 |
Noonan Syndrome 12 |
|
Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, 11 pairs of ribs |
OMIM:618624 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis, Intrauterine growth ... |
OMIM:266200 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia, Hy... |
ORPHA:1867 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Delayed eruption of primary teeth, Micrognathia, High, narrow palate, Pyloric s... |
ORPHA:2409 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Microcephaly... |
OMIM:610253 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Anal atresia |
ORPHA:93950 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia |
OMIM:300484 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Sagittal craniosynostosis, Persistence of primary teeth, Micrognathia,... |
OMIM:201000 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft pa... |
OMIM:619504 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H... |
OMIM:241800 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa... |
OMIM:616730 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ... |
ORPHA:904 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... |
OMIM:607131 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, C... |
OMIM:619123 |
Aase-Smith Syndrome I |
|
Open mouth, Dandy-Walker malformation, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Thic... |
OMIM:220500 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Microcephaly, Brachycephaly, H... |
OMIM:617452 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Microcephaly, Wide mouth, High palate, Tetralogy of Fallot |
OMIM:613398 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognath... |
OMIM:309520 |
Fetal Gaucher Disease |
|
Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthrogryposis multiple... |
ORPHA:85212 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Ventr... |
OMIM:619322 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr... |
OMIM:202650 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios |
ORPHA:3032 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atr... |
OMIM:610759 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Wi... |
OMIM:136760 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal wideni... |
OMIM:184260 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Plagiocephaly, Hypodontia, Tricuspid valve prolapse, Endocardial fibr... |
ORPHA:1973 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowdin... |
OMIM:145420 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Microcephaly, Cleft lip, Narrow mouth, Small hand, Cleft palate, Macrocephaly, Plagiocephaly, Dow... |
OMIM:618089 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Microcephaly, Pericardial effusion, Brachycephaly, Wide mouth, Abnormal cardiac ... |
OMIM:608776 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Turricephaly, Craniosynostosis, Micrognathia, Patent ductus arteriosus, Brachycephaly... |
ORPHA:171839 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Small hand, Brachycephaly, Thick corpus callosum, Prominent occiput, Plagi... |
OMIM:618672 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Abnormality of skin ... |
OMIM:308300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair |
ORPHA:69735 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, Calvarial sku... |
OMIM:616589 |
Hutchinson-Gilford Progeria Syndrome |
|
Precocious atherosclerosis, Micrognathia, Malar flattening, Midface retrusion, Premature coronary... |
OMIM:176670 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Elbow flexion contracture, Still... |
OMIM:617468 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:617159 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Partial anomalo... |
OMIM:617478 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Hyperpigmentation of the skin |
ORPHA:50812 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Deep p... |
ORPHA:404440 |
Doors Syndrome |
|
Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, High pal... |
ORPHA:79500 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, A... |
ORPHA:464321 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Vascular Hyalinosis |
|
Vascular dilatation, Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Microcephaly, High, narrow palate, Small hand, Brachycepha... |
OMIM:617694 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Brachycephaly, Dextrotransposition of the great arteries |
OMIM:619995 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, Dilated cardiomyopathy, Cleft p... |
OMIM:618348 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin |
OMIM:618084 |
Parietal Foramina 1 |
|
Parietal foramina, Macrocephaly, Cleft palate, Cleft upper lip |
OMIM:168500 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Microcephaly, Wide mouth, Everted lower lip vermilion, High palate, Tra... |
OMIM:617982 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Macrocephaly, Ret... |
ORPHA:52055 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin |
OMIM:610768 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Retrognathia, Tetr... |
OMIM:617926 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Brachycephaly, Abnormal heart morphology, Plagi... |
ORPHA:369891 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Microcephaly, Brachycephaly, A... |
ORPHA:505237 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defec... |
OMIM:605275 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Cerebellar hypoplasia, Hypopla... |
OMIM:611961 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Micrognathia, ... |
ORPHA:96097 |
Microphthalmia, Syndromic 2 |
|
Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Persisten... |
OMIM:300166 |
Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Diastema, Patent ductus arteriosus, Brachycephaly, Hi... |
OMIM:609757 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Pylo... |
ORPHA:457279 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep phi... |
ORPHA:251038 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Toriello-Carey Syndrome |
|
Dandy-Walker malformation, Aganglionic megacolon, Micrognathia, Microcephaly, Partial agenesis of... |
ORPHA:3338 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Sub... |
OMIM:614701 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Micrognathia, Microcephaly, Scaphocephaly, Simplified gyral pattern, P... |
OMIM:616777 |
Achondrogenesis Type 2 |
|
Micromelia, Edema, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long... |
ORPHA:93296 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect,... |
OMIM:612530 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ... |
ORPHA:79431 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Selective tooth agenesis, Abnormal cortical gyration, Micrognathia, Microcephal... |
OMIM:613823 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
Muenke Syndrome |
|
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Short middle phalanx of finger, M... |
OMIM:602849 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Dysplastic corpus callosum, Patent ductus arte... |
ORPHA:2328 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Agenesis ... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy |
OMIM:616353 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Patent ductus ar... |
OMIM:121050 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Micrognathia, Pulmonary... |
ORPHA:96167 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Cardiomegaly, Micrognathia, Microcephaly, Brachycephaly, ... |
OMIM:616897 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Tr... |
OMIM:618265 |
Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Frontal bossing, Bicuspid aortic valve, Cleft soft palate, Abnormality of ... |
OMIM:618529 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Thanatophoric Dysplasia |
|
Micromelia, Polyhydramnios, Abnormal sacroiliac joint morphology, Increased nuchal translucency, ... |
ORPHA:2655 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Dilated cardiomyopathy, Cleft palate, Promi... |
OMIM:603736 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Hyd... |
OMIM:187600 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Brachycephaly |
OMIM:615985 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Say Syndrome |
|
Microcephaly, Short distal phalanx of finger, Cleft palate, Micrognathia |
OMIM:181180 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Microcephaly, Thick lower lip vermilion, Brachycephaly... |
ORPHA:261652 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Brachycephaly, Mal... |
OMIM:264180 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... |
OMIM:129400 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Posterior plagiocephaly, Rhizomelic arm shortening, Short lower limbs |
ORPHA:96190 |
Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Chime Syndrome |
|
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... |
ORPHA:3474 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Microcephaly |
ORPHA:1667 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Microcephaly, Pierre-Robin sequence, Cleft palate, Oligodontia... |
OMIM:619184 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Frontal bossing, Abnormal mitral valve morphology, Microcephaly, Bra... |
ORPHA:1292 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Ventricular septal defect, Missing ribs, Brachycephaly, Anteriorly placed anus, ... |
ORPHA:1488 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, Abnormal heart morphology, Retrognathia, Smooth philtrum |
OMIM:263210 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... |
ORPHA:79477 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p... |
OMIM:602418 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft lip, Anencephaly, O... |
ORPHA:1335 |
Tetraploidy |
|
Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing |
ORPHA:3305 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Hypoplastic right heart, Ventricular septal defect, Micrognathia, Cleft lip, Pat... |
OMIM:616894 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Brachycephaly, Lambdo... |
OMIM:618736 |
Hemimegalencephaly |
|
Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white... |
ORPHA:99802 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micromelia, Micrognathia, Brachycephaly, Cleft palate, Malar flat... |
ORPHA:2145 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Short stature, Limb hypertonia |
OMIM:606054 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Microcephaly, Promin... |
OMIM:617360 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing... |
ORPHA:37 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Malrotation of col... |
ORPHA:93932 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Ventricular septal ... |
ORPHA:261494 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palat... |
ORPHA:261197 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Absent pulmonary artery, Patent ductus arteriosus, Cl... |
OMIM:600460 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... |
ORPHA:2876 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Rhizomelia, Micrognathia, Microcephaly, Partial agenesis ... |
OMIM:602398 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Small hand, Simplified gyral... |
OMIM:616051 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Brachycephaly, High palat... |
OMIM:619762 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrhage, Retinal hem... |
OMIM:615368 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Micro... |
OMIM:212066 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Bipa... |
ORPHA:1770 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Patent ductus arteriosus, Small hand, Brachycephaly, Cleft p... |
ORPHA:85276 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Isotretinoin Syndrome |
|
Biparietal narrowing, Cleft palate, Micrognathia |
ORPHA:2305 |
X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone, High palate, Pulmonic stenosis, Abn... |
ORPHA:1131 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Hydrocephalus, Hand po... |
OMIM:314390 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Micrognathia, Secundum atrial septal defect, Microcephaly, Patellar hypoplasia, Cle... |
ORPHA:2257 |
Desmosterolosis |
|
Frontal bossing, Intestinal malrotation, Micromelia, Micrognathia, Pachygyria, Absent septum pell... |
ORPHA:35107 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate... |
OMIM:619074 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Micrognathia, Microcephaly, High, narrow palate, Brachycephaly, Wide mouth, Abnorma... |
ORPHA:2707 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... |
ORPHA:99901 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Myopat... |
OMIM:185070 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Tangier Disease |
|
Left ventricular hypertrophy, Accelerated atherosclerosis, Coronary artery stenosis, Carotid arte... |
ORPHA:31150 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Microcephaly, Brachycephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Brachyce... |
OMIM:620073 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... |
OMIM:251230 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Microcephaly, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Abn... |
ORPHA:2075 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Femoral bowing, Stillbirth, Aortic valve stenosis, Talipes equinovarus, P... |
OMIM:615415 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr... |
OMIM:601005 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Micrognathia, Thyroid lymphang... |
OMIM:235255 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Micromelia, Micrognathia, Cleft p... |
ORPHA:440354 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp... |
OMIM:200990 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus ar... |
OMIM:300712 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Pulmonary hypoplasia |
OMIM:601163 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus |
OMIM:612079 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Cerebellar vermis hypoplasia, Patent ductus arteriosus, Hypodontia, Atrial septal defect, Microdo... |
OMIM:602482 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... |
OMIM:615582 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia, Edema |
OMIM:253310 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Microcephaly, Cleft palate, Coarctation of aorta, Vascular ring, Double ... |
OMIM:616954 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Micrognathia, Patent ductus ar... |
OMIM:130720 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patent ductus arteriosus, Cleft palate, Re... |
OMIM:616462 |
Sweeney-Cox Syndrome |
|
Flat occiput, Micrognathia, Velopharyngeal insufficiency, Patent ductus arteriosus, Brachycephaly... |
OMIM:617746 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Ventricular septal defect, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar ver... |
ORPHA:254346 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pachygyria, Microcephaly, Pulm... |
OMIM:100300 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the... |
OMIM:616331 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Petechiae |
OMIM:617397 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Johnson Neuroectodermal Syndrome |
|
Microcephaly, Carious teeth, Cleft palate, Everted lower lip vermilion, Tetralogy of Fallot |
ORPHA:2316 |
Triploidy |
|
Intestinal malrotation, Micrognathia, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of ... |
ORPHA:3376 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Glossitis, Abdominal aortic aneurysm, Double outlet ... |
ORPHA:397 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Alzahrani-Kuwahara Syndrome |
|
Frontal bossing, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, M... |
OMIM:619268 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Muenke Syndrome |
|
High, narrow palate, Brachycephaly, Macrocephaly, Plagiocephaly, Short foot, Short palm, Malar fl... |
ORPHA:53271 |
Mirage Syndrome |
|
Short stature, Hydrocephalus, Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine gro... |
OMIM:617053 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H... |
ORPHA:231226 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of mou... |
ORPHA:1598 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Hyperkeratosis, Bre... |
ORPHA:238468 |
Distal Deletion 3P |
|
Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermil... |
ORPHA:1620 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Craniosynostosis, Eosinophilic infiltration of the esophagus, Micrognathia... |
OMIM:609192 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... |
ORPHA:565612 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,... |
ORPHA:1865 |
Opitz Gbbb Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defec... |
OMIM:300000 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails |
OMIM:242150 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of the great ... |
OMIM:313850 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Brachycephaly, Atrial septal defect,... |
OMIM:265380 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Subdural... |
OMIM:620278 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Microcephaly, Brachycephaly, Thic... |
OMIM:617798 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Brachycephaly, Narrow palate, Ag... |
OMIM:618644 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Edema, Respiratory tract infection, Hydrocephalus, Telangiectasia, Polydactyly, Umb... |
ORPHA:93400 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Baller-Gerold Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the thumb, Malabsorption, Micrognathia, Aplasia/Hypoplasia... |
ORPHA:1225 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia, Dr... |
OMIM:613990 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth, Disproportionate short-limb short stature |
OMIM:241500 |
Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Erythema, Low anterior hairl... |
ORPHA:742 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Pulmon... |
OMIM:617895 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Agenesis of corpus callosum, Patent foramen oval... |
ORPHA:2745 |
Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Talipes equinovarus, Pallor, Congenital finger flexion contractures, Adducted thumb |
ORPHA:536516 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosis, High palate, Atrial septa... |
OMIM:117650 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Cleft... |
OMIM:154400 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Hydrocephalus, Anencepha... |
OMIM:612284 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... |
ORPHA:1780 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity |
ORPHA:79254 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Macroglossia, Neural tube defect, Cardiomyopathy, Arth... |
ORPHA:79321 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ... |
ORPHA:397590 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Cleft upper lip, Cleft palate, Coarctation of aorta, ... |
ORPHA:2008 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... |
ORPHA:1352 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Hypodysplasia of the corpus callosum, Microcephaly, Brachycephaly, Cleft palate, Ce... |
OMIM:257300 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Pe... |
ORPHA:97360 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... |
ORPHA:1507 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous p... |
ORPHA:2311 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial pol... |
OMIM:616546 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia... |
OMIM:311200 |
Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato... |
ORPHA:231214 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Short stature,... |
OMIM:613686 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of the legs, Ulnar ... |
OMIM:100800 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Short thumb, Patent ductus arteriosus, ... |
ORPHA:1708 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:615948 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Sinusitis, Hypoplastic scapula... |
ORPHA:1452 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Microcephaly, Trismus, Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glossopt... |
OMIM:254940 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... |
OMIM:232300 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Aqueductal stenosis, Abnormal fibula morphology, Tibial ... |
ORPHA:3035 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... |
ORPHA:1692 |
Tarp Syndrome |
|
Atrial septal defect, Subdural hemorrhage, Neonatal death, Intrauterine growth retardation, Tetra... |
OMIM:311900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... |
ORPHA:3320 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Short stature,... |
ORPHA:536545 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial septal defect, Micro... |
ORPHA:2728 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Diaste... |
OMIM:244450 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Short stature, Telangiectasia, Intracranial hemorrhage,... |
ORPHA:109 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Plagiocephaly, M... |
OMIM:613457 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Microcephaly, Cleft palate, A... |
ORPHA:453499 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth r... |
OMIM:609053 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Thin upper lip vermilion, Secundum atrial septal defect, Brachycephaly, Wide mouth |
OMIM:608688 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Dry skin |
OMIM:618282 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Marshall Syndrome |
|
Thickened calvaria, Frontal bossing, Cerebral calcification, Abnormality of the dentition, Microg... |
ORPHA:560 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Cholelithiasis |
ORPHA:822 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... |
OMIM:224410 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Edema, Bowing of the legs, Polyhydramnios, Atelectasis, Short toe, Hydrocep... |
OMIM:269860 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... |
OMIM:158310 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Abnormality of the elbow, Slender long bone, Pulmonary hypoplasia, Abnormal hip b... |
ORPHA:1486 |
Dysostosis, Stanescu Type |
|
Cerebral calcification, Abnormal dental enamel morphology, Micromelia, Abnormality of the dentiti... |
ORPHA:1798 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pol... |
OMIM:200600 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, Retrognathia, Double inlet ... |
OMIM:619869 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Aganglionic megacolon, M... |
OMIM:613603 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Acrofrontofacionasal Dysostosis |
|
Micromelia, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High... |
ORPHA:1784 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Pulmonary hypoplasia, Oligohydramnios |
OMIM:616733 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Toot... |
OMIM:277600 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Ventricular septal defect, Micrognathia, Microcephaly, Porencephalic cyst... |
ORPHA:1393 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Situs inversus totalis, Congeni... |
ORPHA:991 |
Distal Duplication 17Q |
|
Frontal bossing, Thin upper lip vermilion, Rhizomelia, Micrognathia, Microcephaly, Cleft palate, ... |
ORPHA:3379 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Growth delay, Subarachnoid hemorrhage |
OMIM:243700 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle... |
ORPHA:85199 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Brac... |
OMIM:619244 |
Greenberg Dysplasia |
|
Micromelia, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia, Hypoplasia ... |
OMIM:215140 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,... |
OMIM:153400 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Dental crowding, Micrognathia, Hiatus hernia, Vertebral artery tortuo... |
OMIM:619329 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke |
ORPHA:1163 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... |
OMIM:157980 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Congenital pyloric atresia, Shagreen patch |
ORPHA:2617 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, High, narrow palate, Abnormality of dental eruption, Retrognathia, Ab... |
ORPHA:96092 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Short hallux, Long fingers, Congestive heart f... |
ORPHA:3309 |
Familial Melanoma |
|
Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Short femur, Cerebellar vermis hypoplasia, Accessory oral frenulum, Cleft upper... |
OMIM:277170 |
Omenn Syndrome |
|
Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem... |
ORPHA:464 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Teebi-Shaltout Syndrome |
|
Turricephaly, Ventricular septal defect, Microcephaly, High, narrow palate, Scaphocephaly, Cleft ... |
OMIM:272950 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Pulmonary hypoplasia, Talipes equinovarus, Oligohydramnios |
OMIM:191830 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morpho... |
ORPHA:79284 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Hyperkeratosis |
ORPHA:1005 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... |
OMIM:612562 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Dental crowding, Cleft upper lip, Microcephaly, Cleft lip, Patent duct... |
OMIM:257920 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches, Skin ulcer |
ORPHA:47 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Scapular winging, Short stature, Camptodactyly of finger, Spina bifida, Intrauterine growth retar... |
ORPHA:1327 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... |
OMIM:169400 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Chronic bronchitis |
OMIM:616629 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Atrial septal defect, Microdontia, Pulmonic stenosis, Mid... |
OMIM:194050 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left atrium, Coarc... |
OMIM:601186 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Microcephaly, Esoph... |
OMIM:164280 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Dandy-Walker malformation, Relative macrocephaly, Rhizomelia, Ham... |
OMIM:616300 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Brachycephaly, Downturned c... |
OMIM:618371 |
Alagille Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Brachycephaly, ... |
ORPHA:52 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Excessive wrinkled s... |
ORPHA:3322 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Cerebral calcification, Micromelia, Protruding tongue, Microg... |
OMIM:259775 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Microcephaly, Orofacial cleft, Cleft palate, Short philtrum, Solitary... |
ORPHA:280200 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Short stature, Hydrocephalus, Patent ductus arteriosus, Heart murmur, ... |
ORPHA:163979 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Diastema, Deep philtrum, Talon cusp, Short metatarsal, Cleft palate, Plagioceph... |
OMIM:605282 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Abnormality of the dentition, Patent ductus arteriosus, Small hand, B... |
OMIM:300968 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Micrognathia, Complet... |
OMIM:617925 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Microcephaly, Narrow mouth, Brachycephaly, Cleft palate, High palate, Hypoplasia of... |
OMIM:156610 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Polyhydramnios, Facial edema, Epiphyseal stippling, Talipes equinovarus, Pulmon... |
ORPHA:86822 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, A... |
OMIM:618748 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Craniosynostosis, Micrognathia, Complete atrioventricular canal defect,... |
OMIM:611174 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Partial agenesis of the corpus callo... |
OMIM:619512 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Single transverse palmar crease, Polydactyly, Clinodactyly, Bra... |
OMIM:618950 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Cheilitis, Asc... |
ORPHA:2331 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Subarachnoid hemorrhage, Cerebral hemo... |
ORPHA:90068 |
Holoprosencephaly 7 |
|
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Hyp... |
OMIM:610828 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Dilatation of the ventricular cavity, Coronary artery stenos... |
ORPHA:66529 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... |
ORPHA:300298 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger |
OMIM:616362 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature, Limb hypertonia |
OMIM:618480 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Parietal forami... |
OMIM:105650 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Craniosynostosis, Probosci... |
OMIM:605627 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Micro... |
ORPHA:434179 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Arachnoid Cyst |
|
Encephalocele, Facial palsy, Subarachnoid hemorrhage, Hydrocephalus, Holoprosencephaly, Lower lim... |
ORPHA:2356 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Ab... |
ORPHA:3472 |
Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Frontal bossing, Anal stenosis, Dental crowding, Intestinal malrotation, C... |
OMIM:305450 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short palm, Hypoplasia of the maxilla, Narrow m... |
ORPHA:2588 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... |
ORPHA:2751 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,... |
ORPHA:90153 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Brachycephaly, Lambdoidal craniosynostosis, Long philtrum, Atrial septal defect,... |
OMIM:207410 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Recurrent respiratory infections, Early ossification of capital femoral e... |
OMIM:208500 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart mo... |
ORPHA:79282 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Abnormal ossification involving the femoral head and nec... |
ORPHA:1190 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin... |
OMIM:601559 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cerebellar vermis hypoplasia, Ventricular septal defect, Small, conica... |
ORPHA:2962 |
Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair |
OMIM:613075 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna... |
OMIM:309500 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Alopecia of scalp, ... |
OMIM:103285 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
Squalene Synthase Deficiency |
|
Dry skin, Abnormality of hair pigmentation |
OMIM:618156 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agyria, Hypoplasia of the pyramidal tract, Dilated cardiomyopathy, Myocardial fibrosis, Hypoplasi... |
OMIM:253800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Cranial asymmetry, Hemimegalencephaly, Coarctation of aorta |
OMIM:163200 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... |
OMIM:106260 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... |
ORPHA:2177 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductu... |
OMIM:608328 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Pulmonary hypoplasia, Short finger, Edema |
OMIM:312150 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Arthrogryposis multiplex congenita, Pyloric stenosis, Camptodactyly |
OMIM:614262 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Holoprosencephaly 3 |
|
Proboscis, Microcephaly, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary ce... |
OMIM:142945 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormal denta... |
ORPHA:861 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Erythema, Depigmentation/hyperpigmentation of skin, Gene... |
ORPHA:79396 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Gastric varix, Hepato... |
ORPHA:64743 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Ventricular septal defect, Absent septum pellucidum, M... |
OMIM:613884 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Pallor |
ORPHA:98870 |
Meige Disease |
|
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center |
ORPHA:90186 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy... |
OMIM:127550 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Hypotension, Oligohydramnios |
OMIM:267430 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Exaggerated cupid's bow, Narrow mouth, Partial agenesis of the corpus callosum, ... |
OMIM:619480 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Distal Deletion 19P |
|
Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val... |
ORPHA:96129 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Brachycephaly,... |
ORPHA:2095 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:235200 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cerebel... |
OMIM:263520 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Microcephaly, Pericar... |
OMIM:139210 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Polyhydramnios |
OMIM:616867 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Microdontia, P... |
OMIM:613610 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Phocomelia, Microgastria, Agenesis of corpus callosum, Absent septum pelluc... |
ORPHA:2538 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Vertebrobasilar dolichoectasia, ... |
ORPHA:521445 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Patchy alopecia |
ORPHA:85279 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Selective tooth agenesis, Micrognathia, Microcephaly, High, narrow ... |
OMIM:234100 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Patent ductus arteriosus, Gingival overgro... |
ORPHA:96191 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ... |
OMIM:608836 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Short finger, Edema |
OMIM:253290 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Hydrocephalus, Growth delay, Pallor, Abnorm... |
ORPHA:667 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Loeys-Dietz Syndrome |
|
Craniosynostosis, Micrognathia, Arterial tortuosity, Patent ductus arteriosus, Orofacial cleft, H... |
ORPHA:60030 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
Severe Congenital Nemaline Myopathy |
|
Edema of the dorsum of hands, Pulmonary hypoplasia, Polyhydramnios, Adducted thumb |
ORPHA:171430 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Grayish enamel, Carious teeth, Hypoplasia of the odontoid process, Wide mo... |
OMIM:253010 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Coxa valga, Long fingers, Pulmonary hypoplasia, Pulmonic stenosis, Limb undergrow... |
OMIM:608149 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux, Hernia |
ORPHA:98892 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Pulmonary artery stenosis, Ventricular septal defect, Cleft palate |
OMIM:611812 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot |
ORPHA:166035 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Atrial septal defect, Phocomelia, Atri... |
OMIM:274000 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Nephronophthisis 2 |
|
Hypertension, Pulmonary insufficiency, Pulmonary hypoplasia, Oligohydramnios |
OMIM:602088 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial septal defect, ... |
ORPHA:466791 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Brachycephaly, Anteriorly placed ... |
OMIM:608980 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Micrognathia, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abn... |
ORPHA:1724 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cleft palate, O... |
ORPHA:2166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth reta... |
OMIM:619055 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Abnormal endocardium morphology, Short stature, Rhizomelia, Cerebral hemorr... |
ORPHA:666 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... |
ORPHA:544488 |
Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Irregular hyperpigmentation, Dry skin, Abnormality of t... |
ORPHA:428 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Edema, Postaxial hand polydac... |
OMIM:236700 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Brachycephaly, Orofacial cleft, T... |
ORPHA:1519 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Rhombencephalosynapsis |
|
Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala... |
ORPHA:59315 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Mandibuloacral Dysplasia |
|
Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Pigmentary retinopathy, Nail dystrophy, Alopecia universalis, Vitiligo |
OMIM:240300 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypo... |
OMIM:620025 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Ane Syndrome |
|
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin |
ORPHA:157954 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Subdural hemorrh... |
ORPHA:90324 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Broad thumb, Brachydactyly |
OMIM:300978 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Scaling skin, Sparse hair, A... |
ORPHA:158668 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Mottled pigmentation |
OMIM:608612 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Gorlin Syndrome |
|
Mandibular prognathia, Frontal bossing, Cerebral calcification, Carious teeth, Brachycephaly |
ORPHA:377 |
Brittle Cornea Syndrome 1 |
|
Palmoplantar cutis laxa, Red hair |
OMIM:229200 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:1647 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Abnormality of the dentition, Brac... |
OMIM:601088 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Mandibul... |
OMIM:614188 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Baller-Gerold Syndrome |
|
Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Agenesis o... |
OMIM:218600 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Serkal Syndrome |
|
Pulmonary hypoplasia, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... |
ORPHA:3260 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... |
OMIM:302960 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... |
ORPHA:99776 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... |
OMIM:230740 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n... |
OMIM:612289 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Spotty hyperpigmen... |
OMIM:614008 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia, Atrophic scars, Arthrogryposis multiplex congenit... |
OMIM:226730 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal gr... |
ORPHA:363958 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosi... |
ORPHA:1299 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail |
ORPHA:974 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Hip dysplasia, Hydrocephalus, Postaxial polydactyly |
OMIM:614576 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Pallor |
ORPHA:137675 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the radiu... |
OMIM:200980 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Polyhydramnio... |
OMIM:256520 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Craniosynostosis, Arterial tortuosity, Patent ductus arteriosus, Dental malo... |
ORPHA:284984 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches |
ORPHA:2067 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Occipital encephalocele, Abnormal acetabulum morphology, Postax... |
ORPHA:397715 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Dolichocephaly, Hypoplasia of the maxilla, High, narrow palate, Plagioceph... |
ORPHA:1101 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Hydrocephalus, Postaxial polydactyly |
OMIM:603387 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial h... |
OMIM:227646 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:90154 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Short stature |
OMIM:616430 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Preaxial hand polydactyly, Respiratory infections in early life, Pulmonary hypoplasia, Clinodacty... |
ORPHA:96179 |
Superficial Siderosis |
|
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Abnormal vertebral artery... |
ORPHA:247245 |
Metachromatic Leukodystrophy |
|
Dystonia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder, Abnormal duodenum mor... |
ORPHA:512 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Parietal foramina, Hypoplasia of the maxilla, Oxycephaly, Cleft of chin,... |
OMIM:101400 |
Congenital Myopathy 17 |
|
Overlapping toe, Polyhydramnios, Tapered finger, Respiratory tract infection, Pulmonary hypoplasi... |
OMIM:618975 |
Meester-Loeys Syndrome |
|
Short stature, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dil... |
OMIM:300989 |
Xeroderma Pigmentosum |
|
Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocytic nevus, Hyperke... |
ORPHA:910 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Su... |
ORPHA:2108 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Scaling skin, Alopecia universalis |
OMIM:606367 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Fetal Akinesia Deformation Sequence |
|
Polyhydramnios, Pulmonary hypoplasia, Camptodactyly of finger, Absent palmar crease |
ORPHA:994 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Polyhydramnios, Flared... |
ORPHA:50945 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal s... |
ORPHA:306542 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Dehydration, Hypertension, Pulmonary hypoplasia, Neonatal death... |
OMIM:263200 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
Carpenter Syndrome 2 |
|
Frontal bossing, Atrial septal defect, Dextrocardia, Craniosynostosis, Situs inversus totalis, Hi... |
OMIM:614976 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass, Short stature |
OMIM:616507 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, Short philtrum, High palat... |
OMIM:135900 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Microcephaly, Situs inversus totalis, Small hand, Brachycephaly, Cleft pal... |
ORPHA:1449 |
Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
Juvenile Dermatomyositis |
|
Alopecia, Erythema, Dry skin, Skin ulcer |
ORPHA:93672 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Stroke, Abnormal pulmonary artery... |
ORPHA:167635 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer... |
ORPHA:548 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Polyhy... |
OMIM:208150 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmen... |
ORPHA:2909 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:620114 |
1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Pulmonary hypoplasia, Talipes equinovarus |
ORPHA:250999 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Immunodeficiency 7 |
|
Patchy alopecia, Vitiligo |
OMIM:615387 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Lymphedema, Metaphyseal widening, Abnormal finger morphology, Sl... |
ORPHA:536471 |
Chronic Granulomatous Disease |
|
Malabsorption, Splenomegaly, Mediastinal lymphadenopathy, Pyloric stenosis, Tracheoesophageal fis... |
ORPHA:379 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Descending aortic ... |
ORPHA:558 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Repeated pneumot... |
ORPHA:536467 |
Diaphanospondylodysostosis |
|
Increased nuchal translucency, Narrow pelvis bone, Hammertoe, Talipes equinovarus, Pulmonary hypo... |
OMIM:608022 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Brachycephaly, Orofacial cleft, High palate, Atrial septal defect, Pachygy... |
OMIM:607872 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism, Striae distensae |
ORPHA:189427 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Dy... |
OMIM:617301 |
Mixed Connective Tissue Disease |
|
Alopecia, Purpura |
ORPHA:809 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Low posterior hairline |
ORPHA:2959 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Cardiomyopathy, Pulmonary hypoplasia, Congestive heart failure, Oligohydramnios |
OMIM:616866 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Short femur, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Sh... |
OMIM:620306 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... |
ORPHA:75565 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin... |
ORPHA:2754 |
Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Erythema, Poliosis |
ORPHA:79098 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Polyhydramnios, Deep palmar crease, Polydactyly, Camptodactyly, ... |
OMIM:247200 |
Hellp Syndrome |
|
Hypotension, Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage |
ORPHA:244242 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth... |
OMIM:201180 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... |
ORPHA:79474 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... |
OMIM:263700 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Perianal erythema, Sparse scalp hair, Absent ... |
OMIM:308205 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis... |
OMIM:265000 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Polyhydramnios, Non... |
OMIM:620369 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Lower limb muscle weakness, Quadriceps muscle atrophy |
ORPHA:199244 |
Renal Agenesis |
|
Hypertension, Pulmonary hypoplasia, Talipes equinovarus, Oligohydramnios |
ORPHA:411709 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary vein morpho... |
ORPHA:709 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, High palate, Truncal titubation |
OMIM:618056 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal pa... |
OMIM:154500 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Marden-Walker Syndrome |
|
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, ... |
OMIM:248700 |
Choanal Atresia |
|
Recurrent respiratory infections, Polydactyly |
ORPHA:137914 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Erythema, Facial erythem... |
ORPHA:221016 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Facial erythema, Sparse ... |
ORPHA:221008 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Peripheral... |
OMIM:614099 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Cerebellar vermis hypoplasia, V... |
OMIM:620330 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Short palm, Atrial septal defect, Agenesis o... |
OMIM:312870 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
Caudal Regression Syndrome |
|
Abnormal iliac wing morphology, Hypertension, Abnormal pelvic girdle bone morphology, Pulmonary h... |
ORPHA:3027 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Polydactyly, Aspiration pneumonia |
ORPHA:314655 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Acrocephalopolydactylous Dysplasia |
|
Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites |
OMIM:200995 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:608800 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... |
ORPHA:3380 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation |
OMIM:613001 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Joint contracture |
OMIM:616881 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Congenital diaphragmatic her... |
ORPHA:2092 |
Alstrom Syndrome |
|
Pigmentary retinopathy, Alopecia |
OMIM:203800 |
Genitopatellar Syndrome |
|
Hip contracture, Hypoplastic ilia, Patellar aplasia, Radioulnar synostosis, Talipes equinovarus, ... |
ORPHA:85201 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic iliac wing, Short tib... |
ORPHA:96334 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Atrial septal defect, Short stature, Spina bifida, Patent ductus... |
ORPHA:567 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Recurrent upp... |
ORPHA:404448 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele |
ORPHA:2789 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Alopecia totalis, Nail dystrophy, Abnormality of the periungual region, Vitiligo |
ORPHA:293978 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small... |
OMIM:263650 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:168569 |
Yunis-Varon Syndrome |
|
Flat occiput, Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Abnormal calvaria mor... |
OMIM:216340 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Over... |
OMIM:300960 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Hyperkeratosis, L... |
ORPHA:79430 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Dpagt1-Cdg |
|
Prolonged QT interval, Flexion contracture, Stroke-like episode, Intracranial hemorrhage, Camptod... |
ORPHA:86309 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... |
OMIM:617527 |
Degcags Syndrome |
|
Hepatomegaly, Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cholestasis, He... |
OMIM:619488 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2612 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Intrauterine growth retar... |
OMIM:227645 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Internal carotid artery dissection, Bicuspid aortic valve, Mild postnatal growt... |
OMIM:150230 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Dry skin, Abnormality of hair texture |
ORPHA:96169 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Rhabdomyosarcoma, Arrhythmia, Spina bifida |
ORPHA:2874 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Growth delay, Abnormal aort... |
ORPHA:84 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, ... |
ORPHA:464306 |
Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Meningioma |
|
Facial palsy, Cerebral hemorrhage, Hydrocephalus, Upper limb muscle weakness, Syncope, Lower limb... |
ORPHA:2495 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Macroglossia, Abnormal odontoid tissue morpholo... |
ORPHA:79255 |
Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Arthrogryposis mu... |
ORPHA:2671 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Congenital diaphragmatic hernia, Contracture of the distal inte... |
OMIM:613406 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Preaxial hand polyd... |
OMIM:617063 |
Sandhoff Disease |
|
Macroglossia, Exaggerated startle response, Hepatosplenomegaly |
OMIM:268800 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Cafe-au-lait spot, Uncombable hair, Woolly hair, Dry skin... |
ORPHA:84064 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Mottled pigmentation, Onychogryposis |
OMIM:248370 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Nail-Patella Syndrome |
|
Biceps aplasia, Short stature, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia,... |
OMIM:161200 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, ... |
OMIM:162200 |
Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand, Polyhydramnios, Talipes equinovarus, Pulmonary hypoplasia, Short umb... |
OMIM:616503 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Dehydration, Hypertension, Pulmonary hypoplasia |
ORPHA:2260 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Short stature, Telangiectasia |
ORPHA:420741 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly |
OMIM:617757 |
Behcet Syndrome |
|
Erythema, Patchy alopecia |
OMIM:109650 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop... |
ORPHA:2308 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin |
ORPHA:2750 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Oligohydramnios, Sirenomelia |
ORPHA:1848 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Sandal gap, Single transverse palmar crease, Periorbital edema, Atelectasis, Recurrent pneumonia,... |
OMIM:613177 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Polyhydramnios, Postaxial hand polyda... |
ORPHA:818 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Broad hallux, Sandal gap, Tapered finger, Small hand, Heart mur... |
OMIM:615873 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Distal Triplication 15Q |
|
Hydrocephalus, Arachnodactyly, Pulmonary hypoplasia, Camptodactyly |
ORPHA:314588 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... |
ORPHA:1662 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... |
OMIM:192350 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dysphagia, Hepatosplenomegaly, Dystonia, Laryngeal dystonia |
ORPHA:845 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, High palate, Dystonia |
ORPHA:438216 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Redundant skin |
ORPHA:536532 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Alg9-Cdg |
|
Ulnar deviation of the hand, Rhizomelia, Tricuspid regurgitation, Pericardial effusion, Flared me... |
ORPHA:79328 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:600901 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Neonatal death, Ascites |
OMIM:608013 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Joint contracture |
OMIM:617864 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Erythema, Hypopigmented skin patches, Patchy alopecia, Hyperpigm... |
ORPHA:90289 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Reticulated skin pigmentation, Pterygium of ... |
OMIM:305000 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:227650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Aqueductal stenosis, Neonatal death, Syndactyly, Tricuspid regurgitation, ... |
OMIM:619534 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Pu... |
ORPHA:2990 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... |
OMIM:616580 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Contractures of the large joints, High palate, Dystonia, Impaired o... |
ORPHA:521426 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... |
OMIM:175780 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Microphthalmia, Syndromic 6 |
|
Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Aplasia/Hypoplasia of the corpus callosu... |
OMIM:607932 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Metatarsus addu... |
OMIM:214100 |
Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Craniosynostosis, Cleft upper l... |
OMIM:268300 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... |
ORPHA:139417 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Polyhydramnios,... |
OMIM:229850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Patent ductu... |
OMIM:164210 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Ho... |
OMIM:270400 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Over... |
OMIM:619708 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Hypersplenism, Splenomegaly, Celiac disease, Hematemes... |
OMIM:301068 |
Pallister-Hall Syndrome |
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Abnormal lung lobation, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia... |
ORPHA:672 |
Bardet-Biedl Syndrome 20 |
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Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Biotinidase Deficiency |
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Alopecia |
ORPHA:79241 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Kinsship Syndrome |
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Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Micromelia, Preaxia... |
ORPHA:2753 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Colchicine Poisoning |
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Alopecia |
ORPHA:31824 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Growth delay, Anemic pallor |
ORPHA:329971 |
Stromme Syndrome |
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Hydrocephalus, Stillbirth, Preaxial polydactyly |
OMIM:243605 |
Diamond-Blackfan Anemia |
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Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Growth delay, Pal... |
ORPHA:124 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Alopecia, Nail dystrophy |
ORPHA:37042 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Bidirectional shunt, Elevated pulmonary artery pressure, Pulmonary hypoplasia, Oligohydramnios |
OMIM:619351 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Recurrent respiratory infections, Short femur, Polydactyly, Hypertrophic cardiomyo... |
ORPHA:17 |
Multiple Endocrine Neoplasia Type 2 |
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Neoplasm of the liver, Pallor |
ORPHA:653 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Microcephaly, Secundum atrial septal defect, Patent ductus arteriosus, Pla... |
OMIM:613355 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Wiedemann-Rautenstrauch Syndrome |
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Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Relapsing Polychondritis |
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Alopecia, Erythema, Purpura |
ORPHA:728 |
Legius Syndrome |
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Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, ... |
ORPHA:137605 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Woodhouse-Sakati Syndrome |
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Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Polydactyly, 2-4 to... |
ORPHA:268261 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Abnormal ilium morphology, Pulmonary hypoplasia, Polyhydramnios, Short distal phalanx of finger |
OMIM:614080 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Syndactyly, Recurrent respiratory infections, Broad hallux, Deviation of the hallux, Cardiac cond... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Syndactyly, Recurrent respiratory infections, Broad hallux, Deviation of the hallux, Cardiac cond... |
ORPHA:353277 |
Monosomy 9Q22.3 |
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Palmar pits, Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:77301 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, Hepatocellular carcinoma |
OMIM:300755 |
Chronic Graft Versus Host Disease |
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Alopecia, Erythema, Skin ulcer, Abnormality of skin pigmentation, Onycholysis, Nail dystrophy, Sk... |
ORPHA:99921 |
Wiedemann-Rautenstrauch Syndrome |
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Congenital malformation of the left heart, Downturned corners of mouth, Hypoplastic vertebral bod... |
ORPHA:3455 |
Insulin-Resistance Syndrome Type B |
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Alopecia, Hirsutism |
ORPHA:2298 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Neonatal death, Pulmonary hypoplasia |
OMIM:231680 |
3Mc Syndrome 3 |
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Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Gastroesophageal reflux |
OMIM:615574 |
Infection-Related Hemolytic Uremic Syndrome |
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Pallor, Pancreatitis |
ORPHA:544482 |
Retinitis Pigmentosa 74 |
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Polydactyly |
OMIM:616562 |
Restrictive Dermopathy 1 |
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Rocker bottom foot, Polyhydramnios, Hydropic placenta, Overtubulated long bones, Stillbirth, Oste... |
OMIM:275210 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Tsh-Secreting Pituitary Adenoma |
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Pallor, Delayed puberty |
ORPHA:91347 |
Autoimmune Polyendocrinopathy Type 4 |
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Alopecia, Vitiligo |
ORPHA:227990 |
Basal Cell Nevus Syndrome 2 |
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Hydrocephalus |
OMIM:620343 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Portal hypertension, Pulmonary hypoplasia, Neonatal death, Aortic valve stenosis, Oligohydramnios |
OMIM:208540 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Oligohydramni... |
ORPHA:3404 |
Autosomal Dominant Robinow Syndrome |
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Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... |
ORPHA:3107 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Cone-shaped epiphysis, Short l... |
OMIM:617088 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:457284 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Phocomelia, Schinzel Type |
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Meningocele |
ORPHA:2879 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Preaxial polydactyly |
ORPHA:163681 |
Autoimmune Polyendocrinopathy Type 3 |
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Alopecia, Vitiligo |
ORPHA:227982 |
Joubert Syndrome |
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Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly |
ORPHA:475 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
Rabson-Mendenhall Syndrome |
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Cardiomyopathy, Polydactyly |
ORPHA:769 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Enamel hypoplasia, Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Matthew-Wood Syndrome |
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Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail |
ORPHA:79404 |
Culler-Jones Syndrome |
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Postaxial polydactyly |
OMIM:615849 |
Khan-Khan-Katsanis Syndrome |
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Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly |
OMIM:618460 |
Schinzel-Giedion Syndrome |
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Overlapping fingers, Overlapping toe, Tibial bowing, Neural tube defect, Radioulnar synostosis, C... |
ORPHA:798 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Campomelic Dysplasia |
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Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydrocephalus, Abno... |
OMIM:114290 |
Otopalatodigital Syndrome, Type Ii |
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Short stature, Elbow contracture, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stil... |
OMIM:304120 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Postaxial polydactyly, Increased nuchal translucency, Hip dysplasia, Branchial anomaly, Talipes e... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Postaxial polydactyly, Increased nuchal translucency, Hip dysplasia, Branchial anomaly, Talipes e... |
ORPHA:352665 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Scarring alopecia of scalp, Atrophic scars, Flexion contracture, Congenital pyloric atresia |
ORPHA:158684 |
Vici Syndrome |
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Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism |
OMIM:242840 |
Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Ring Chromosome 13 Syndrome |
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Abnormality of skin pigmentation, Alopecia, Cafe-au-lait spot |
ORPHA:96176 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
Fraser Syndrome 1 |
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Encephalocele, Aplasia/Hypoplasia of the thumb, Myelomeningocele, Aplasia/Hypoplasia of the phala... |
OMIM:219000 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99413 |
Mosaic Monosomy X |
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Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99226 |
Turner Syndrome |
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Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:881 |
Kikuchi-Fujimoto Disease |
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Alopecia, Erythema |
ORPHA:50918 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Generalized hypopigmentation, Alopecia |
OMIM:619321 |
Semilobar Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Tetrasomy 9P |
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Pericarditis, Hypoplastic scapulae, Raynaud phenomenon, Hydrocephalus, Small hand, Umbilical hern... |
ORPHA:3310 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Spontaneous pneumothorax, Portal hypertension, Recurrent pneumonia, ... |
ORPHA:731 |
Faciocardiomelic Syndrome |
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Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Joubert Syndrome 21 |
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Encephalocele, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
Genitopatellar Syndrome |
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Hip contracture, Congenital hip dislocation, Polyhydramnios, Patellar aplasia, Inferior pubic ram... |
OMIM:606170 |
Steinert Myotonic Dystrophy |
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Early balding, Alopecia |
ORPHA:273 |
Systemic Lupus Erythematosus |
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Alopecia |
ORPHA:536 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Fraser Syndrome |
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Encephalocele, Finger syndactyly, Toe syndactyly, Myelomeningocele, Abnormal lung lobation, Pulmo... |
ORPHA:2052 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Pulmonary hypoplasia, Oligohydramnios |
OMIM:271520 |
Okamoto Syndrome |
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Hip dysplasia, Polydactyly, Aortic valve stenosis, Oligohydramnios |
ORPHA:2729 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Tetraamelia Syndrome 1 |
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Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia, Hypoplastic pelvis |
OMIM:273395 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Melanocytic n... |
ORPHA:286 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Polydactyly, Abnormal digit morphology, Holoprosencephaly, Hypotension |
ORPHA:95494 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Dysphagia |
OMIM:618367 |
Focal Dermal Hypoplasia |
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Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment... |
OMIM:305600 |
Sarcoidosis |
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Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd... |
OMIM:601803 |
Pmm2-Cdg |
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Pericarditis, Multiple joint contractures, Angina pectoris, Pericardial effusion, Intracranial he... |
ORPHA:79318 |
Penile Agenesis |
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Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:49 |
Cystinosis, Nephropathic |
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Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia, Gastroesophageal reflux, Dysphagia, Uterine prolapse |
ORPHA:438213 |
African Trypanosomiasis |
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Alopecia |
ORPHA:3385 |
Goodpasture Syndrome |
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Pallor |
OMIM:233450 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, High palate, Dysphagia |
OMIM:619522 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi... |
OMIM:309800 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |
Medulloblastoma |
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OMIM:155255 |
Meningioma, Familial, Susceptibility To |
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OMIM:607174 |