| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Miller-Dieker syndrome (MDS) |
|
Abnormal heart morphology, Microcephaly, Frontal bossing, Lissencephaly |
DECIPHER:21 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... |
ORPHA:2722 |
| Genitopalatocardiac Syndrome |
|
Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... |
ORPHA:3361 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, 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 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Cleft lip, Frontal bossing, Biventricular hypertrophy, Coronary artery fi... |
OMIM:619343 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Alopecia, Nail dystrophy |
OMIM:616487 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... |
OMIM:104100 |
| Hidrotic Ectodermal Dysplasia |
|
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... |
ORPHA:189 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... |
OMIM:158000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Isolated Dandy-Walker Malformation |
|
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Prominent occiput, Dandy-Walker m... |
ORPHA:217 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... |
OMIM:212360 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Micrognathia, Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... |
ORPHA:79397 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Micrognathia, Thin upper lip vermilion, Persistent left superior vena cava, ... |
ORPHA:3304 |
| Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect, Microcephaly, Micrognathia, Dolichocephaly |
OMIM:620071 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Microcephaly, Notched primary central incisor, Macrocephaly |
OMIM:620062 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... |
ORPHA:1110 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Cerebral atrophy, Thick lower lip verm... |
OMIM:179613 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp |
ORPHA:346 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven... |
OMIM:600987 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Prominent occiput, Micrognath... |
OMIM:220210 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... |
ORPHA:248 |
| Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Hypoplasia of the corpus ca... |
OMIM:614294 |
| Sandestig-Stefanova Syndrome |
|
Retrognathia, Muscular ventricular septal defect, Trigonocephaly, Hypoplasia of the corpus callos... |
OMIM:618804 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic ... |
ORPHA:94066 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Microcephaly, Perimembranous ventricular septal defect, Periventricular leukomalacia |
OMIM:619170 |
| Houge-Janssens Syndrome 3 |
|
Plagiocephaly, Hypoplasia of the brainstem, Muscular ventricular septal defect, Hypoplasia of the... |
OMIM:618354 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... |
ORPHA:69125 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coronary artery fis... |
OMIM:620024 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... |
ORPHA:2269 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Abnormal lung morph... |
ORPHA:294975 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... |
ORPHA:363444 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... |
ORPHA:573 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Abnormal heart morphology, Microcephaly, Craniosynostosis, Cleft palate |
OMIM:600252 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... |
ORPHA:1008 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Thin upper lip vermilion, Overriding aorta, Atrial septal defect, Pate... |
OMIM:601927 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular... |
OMIM:620135 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Mmep Syndrome |
|
Ventricular septal defect, Median cleft upper lip, Microcephaly, Orofacial cleft, Mandibular prog... |
ORPHA:3434 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail |
OMIM:302000 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Taurodontia, Perimembranous ventricular septal defect, Enamel hypoplasia, At... |
OMIM:618205 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... |
ORPHA:1919 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... |
ORPHA:79395 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Microcephaly, Brachycephaly, Transp... |
ORPHA:1913 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Hypotrichosis 6 |
|
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... |
OMIM:607903 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs of ribs, Anterior open-... |
OMIM:617877 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect |
OMIM:620203 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Congenital onychodyst... |
ORPHA:2890 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente... |
ORPHA:2251 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin, Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Micrognathia, Glossoptosis, Frontal bossing, Cleft palate, Pierre... |
OMIM:311895 |
| Nemaline Myopathy 9 |
|
High palate, Micrognathia, Cleft palate, Ventricular septal defect |
OMIM:615731 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Dolichocephaly, Coarctation of aorta, Transpositi... |
ORPHA:261243 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Long philtrum, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Thin u... |
ORPHA:477817 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Micrognathia, Abnormal lower lip ... |
ORPHA:1166 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Atrial se... |
OMIM:601322 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Erythrokeratodermia Variabilis |
|
Erythema, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Dry skin, Patchy palmo... |
ORPHA:317 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Carious teeth, Downturned corners of mouth, Multiple muscular ventr... |
OMIM:620070 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... |
OMIM:300918 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... |
ORPHA:36382 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic ma... |
OMIM:618373 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Pentasomy X |
|
Small hand, Plagiocephaly, Micrognathia, Microcephaly, Abnormal cardiac septum morphology, Short ... |
ORPHA:11 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Overriding a... |
OMIM:617022 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... |
OMIM:619208 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity |
ORPHA:1366 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Plagiocephaly, Retrognathia, Muscular ventricular septal defect, Submucous cleft hard palate, Mic... |
OMIM:619227 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Pulmonary hyp... |
OMIM:613124 |
| Classic Mycosis Fungoides |
|
Erythema, Alopecia, Irregular hyperpigmentation, Skin ulcer, Hypopigmented skin patches, Dry skin... |
ORPHA:2584 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Agenesis of corpus callosum, Ventricular septal defect, Overriding a... |
OMIM:101200 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Ch... |
OMIM:620642 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Chromosome 9P Deletion Syndrome |
|
High, narrow palate, Narrow palate, Retrognathia, Long philtrum, Trigonocephaly, Micrognathia, Na... |
OMIM:158170 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Feingold Syndrome 2 |
|
Short thumb, Secondary microcephaly, Short middle phalanx of the 2nd finger, Ventricular septal d... |
OMIM:614326 |
| Feingold Syndrome Type 2 |
|
Short thumb, Jejunal atresia, Ventricular septal defect, Microcephaly, Short middle phalanx of fi... |
ORPHA:391646 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Micrognathia, Abnormal palate morphology, Abnormal mitral valve morphology, Mesom... |
ORPHA:1277 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Hypointensity of cerebral white matter on MRI, Thin upper lip vermilion, Microceph... |
ORPHA:46 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, M... |
OMIM:601355 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Anonychia With Flexural Pigmentation |
|
Dry skin, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Lichen Planopilaris |
|
Alopecia, Skin ulcer, Hypopigmented skin patches, Abnormal fingernail morphology, Onycholysis, Hy... |
ORPHA:525 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor |
ORPHA:2786 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Agenesi... |
OMIM:618142 |
| Pierre Robin Syndrome And Oligodactyly |
|
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Sotos Syndrome |
|
High, narrow palate, Narrow palate, Mandibular prognathia, Cavum septum pellucidum, Muscular vent... |
OMIM:117550 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Narrow mouth, Microcephaly, Brachycephaly, High palate |
ORPHA:2528 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Narrow mouth, Submucous clef... |
ORPHA:3426 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Long philtrum, Tetralogy of Fallot, Abnormal heart morphology, Micrognath... |
ORPHA:2209 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:46532 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Porphyria Cutanea Tarda |
|
Hyperpigmentation in sun-exposed areas, Alopecia, Onycholysis, Facial hypertrichosis |
OMIM:176100 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Short distal phalanx of finger, Micrognathia, Abnormal aortic morphology, Tr... |
ORPHA:2516 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Dolichocephaly, Thin vermilion border |
ORPHA:3303 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Oligodontia, Thin upper lip vermilion, Ventricular septal defect, Atrial septal de... |
OMIM:618330 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Alopecia Totalis |
|
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails |
ORPHA:700 |
| 14Q11.2 Microdeletion Syndrome |
|
Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventricular septal defect, De... |
ORPHA:261120 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair |
OMIM:275400 |
| Meckel Syndrome, Type 11 |
|
Oligohydramnios, Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... |
ORPHA:2631 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... |
ORPHA:2476 |
| Catel-Manzke Syndrome |
|
Oral synechia, Micrognathia, Malar flattening, Ventricular septal defect, Atrial septal defect, G... |
ORPHA:1388 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Micrognathia, Abnormal aortic mor... |
ORPHA:1926 |
| Thomas Syndrome |
|
Hypoplastic left heart, Dolichocephaly, Cleft palate, Cleft upper lip |
ORPHA:3316 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Glossoptosis, Cleft palate |
ORPHA:718 |
| Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Scaling skin, Hyperkeratosis, Slo... |
ORPHA:90368 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... |
ORPHA:1882 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p... |
OMIM:608227 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Retrognathia, Tetralogy of Fa... |
OMIM:612561 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... |
OMIM:619657 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Narrow mouth, Malar flattening, Microcephaly, Atrial septal defect, Cleft palate |
ORPHA:93946 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Malar flattening, Hypoplasia of the corpus callosum, Agenesis of corpus callo... |
OMIM:218350 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Intestinal ma... |
OMIM:605376 |
| 8Q12 Microduplication Syndrome |
|
Long philtrum, Narrow mouth, Ventricular septal defect, Brachycephaly, Everted lower lip vermilio... |
ORPHA:228399 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Camptodactyly, Flexion contracture of finger, Polyhydramnios, Bilatera... |
OMIM:617194 |
| German Syndrome |
|
Tetralogy of Fallot, Micrognathia, Open mouth, Orofacial cleft, Brachycephaly, Everted lower lip ... |
ORPHA:2077 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... |
OMIM:604536 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Non-Distal Duplication 10Q |
|
Micrognathia, Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate, Frontal bossing |
ORPHA:1695 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi... |
OMIM:301022 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617021 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Hypoplasia of the pons, Ventricular septal defect, Microcephaly, Atrial septal defect, Thin corpu... |
OMIM:614249 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Lujan-Fryns Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t... |
ORPHA:776 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... |
ORPHA:2001 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Long philtrum, Tetralogy of Fallot, Intestinal malrotation, Patent forame... |
OMIM:618316 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Nail dyspla... |
OMIM:612843 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Long philtrum, Micrognathia, Patent for... |
OMIM:618821 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Duodenal atresia, Micrognathia, Median cleft palate, Patent foramen ovale... |
OMIM:301043 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Thick lower lip vermilion, Tetralogy of Fallot, Hypoplasia of the corpus... |
OMIM:612946 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis |
ORPHA:178377 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Fetal Minoxidil Syndrome |
|
Micrognathia, Ventricular septal defect |
ORPHA:1918 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the dentition, Microretrognathia, Tetralogy of Fallot, Microcephaly, Abnormality o... |
ORPHA:276422 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... |
OMIM:616099 |
| Dural Sinus Malformation |
|
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Hyperkeratosis |
OMIM:136300 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... |
OMIM:619816 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Widely spaced teeth, Atrioventricular canal defect, Premature loss of primary teeth, Microdontia,... |
OMIM:617364 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Abnormal heart morphology, Secondary microcephaly, Frontal bossing, Cleft palate |
ORPHA:231147 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cerebral atrophy, Scaphocephaly, Prominence of the premaxilla, Microcephaly, Double outlet right ... |
OMIM:614886 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... |
OMIM:251255 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Short 4th toe, Short thumb, Muscular ventricular septal defect, Short 5th m... |
OMIM:618569 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly, Mandibular progn... |
OMIM:309545 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Short femur, Short toe, Cleft upper lip, Micrognathia, Narrow mouth, Short humerus, ... |
OMIM:616145 |
| Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, M... |
OMIM:617616 |
| Schopf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... |
OMIM:224750 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate |
ORPHA:2016 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Short thumb, Duodenal atresia, Abnormal heart morphology, Short middle p... |
ORPHA:391641 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morphology, Hyperkeratosis, Abn... |
ORPHA:494 |
| Huriez Syndrome |
|
Palmoplantar keratoderma, Small nail, Dry skin, Lack of skin elasticity, Abnormality of the nail |
ORPHA:384 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colonic atresia, Anteriorly placed anus, Absent septum pellucidum, Histiocytoid cardiomyopathy, A... |
OMIM:309801 |
| Cornelia De Lange Syndrome 2 |
|
Small hand, Downturned corners of mouth, Hypertrophic cardiomyopathy, Micrognathia, Thin upper li... |
OMIM:300590 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate |
OMIM:119540 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Median cleft upper lip, Microcephaly, Overriding aorta, Orofacial cleft, Apl... |
ORPHA:3186 |
| Chromosome 15Q14 Deletion Syndrome |
|
Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal defect, Everted l... |
OMIM:616898 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp... |
OMIM:605676 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Microcephaly, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Ventricular septal d... |
OMIM:615524 |
| Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Patchy alopecia, ... |
ORPHA:79153 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... |
ORPHA:2325 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Holoprosencephaly 14 |
|
Cleft lip, Proboscis, Frontal bossing, Absent septum pellucidum, Ventricular septal defect, Media... |
OMIM:619895 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... |
OMIM:115197 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Diffuse cerebral atrophy, Microcephaly, Brachycephaly, Flat occiput |
ORPHA:2898 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
| Bathing Suit Ichthyosis |
|
Alopecia, Nail dystrophy, Parakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Sparse hair |
ORPHA:100976 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla... |
OMIM:600001 |
| Oculoauriculofrontonasal Syndrome |
|
Cleft lip, Micrognathia, Narrow mouth, Pericallosal lipoma, Ventricular septal defect, Microcepha... |
ORPHA:398156 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal... |
ORPHA:261183 |
| Cerebral Cavernous Malformations 2 |
|
Stroke, Cerebral cavernous malformation, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Retrognathia, Cerebral atrophy, Micrognathia, Narrow mouth, Protru... |
OMIM:608779 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal... |
OMIM:611376 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Short 4th toe, Foot oligodactyly, Short 5... |
OMIM:620662 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long philtrum, Narrow mouth, Microcephaly, Coarctation of aorta, Atrial septal defect, Thin vermi... |
OMIM:615502 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal bleeding, Excess... |
ORPHA:325 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia,... |
ORPHA:2780 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Trigonocephaly, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septal ... |
OMIM:618506 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Oro... |
ORPHA:3427 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... |
OMIM:241310 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Absence of the sacrum, Cerebral atrophy, Duodenal atresi... |
OMIM:270100 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Age... |
ORPHA:2919 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion border, Pulmonic s... |
ORPHA:251076 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... |
ORPHA:169805 |
| Autosomal Recessive Amelia |
|
Micrognathia, Amelia, Acromelia of the lower limbs, Orofacial cleft, Abnormal cardiac septum morp... |
ORPHA:1027 |
| Diprosopus |
|
Cleft palate, Anencephaly, Non-midline cleft of the upper lip, Abnormal cardiac septum morphology |
ORPHA:1681 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Sporadic Fetal Brain Disruption Sequence |
|
Cerebral cortical atrophy, Plagiocephaly, Microcephaly, Prominent occiput |
ORPHA:1665 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Factor Vii Deficiency |
|
Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after... |
OMIM:227500 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Plagiocephaly, Retrognathia, Micrognathia, Periventricular leukomalacia, Dee... |
OMIM:617808 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Micrognathia, Bicuspid aortic valve, Atrial septal defect, High palate, Patent ductus arteriosus,... |
OMIM:612474 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Micrognathia, Ventricular s... |
ORPHA:1727 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Everted lower lip vermilion, Atrial septal defect, Patent ductus arter... |
OMIM:249670 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Hematochezia, Gastrointestinal hemorrhage, Joint hemorrhage, Bruisi... |
ORPHA:326 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Bifid uvula, Cleft upper lip, Hypoplasia of the corpus callosum, Microcephaly, Dysplastic pulmona... |
OMIM:300958 |
| Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Patent foramen ovale, Thin upper l... |
OMIM:619149 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Sparse hair |
OMIM:242300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Perimembranous ventricular septal defect, Patent ductus arteriosus, L... |
OMIM:608104 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Cerebral atrophy, Diastema, Thick lower lip vermilion, Protruding tongue, ... |
OMIM:301040 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Fumarase Deficiency |
|
Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus... |
OMIM:606812 |
| Woolly Hair-Skin Fragility Syndrome |
|
Acantholysis, Woolly hair, Palmoplantar keratoderma |
OMIM:620415 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Plagiocephaly, Polymicrogyria, Abnormal heart morphology, Hypopl... |
ORPHA:500159 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Global brain atrophy, Retrognathia, Hypoplasia of the corpus callosum, Ventricular se... |
OMIM:301056 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Cleft palate |
OMIM:249710 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... |
ORPHA:169802 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development |
|
Alopecia |
OMIM:242510 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Temtamy Syndrome |
|
Short toe, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Ab... |
ORPHA:1777 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Long philtrum, Thick lower lip vermilion, Abnormal pulmonary valve morphology, Thin upper lip ver... |
ORPHA:137634 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect, Cleft palate |
OMIM:243440 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Acromesomelia, Mandibular prognathia, Downturned corners of mouth, Micrognat... |
ORPHA:435638 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Cat-Eye Syndrome (Type I) |
|
Abnormal heart morphology, Anal atresia, Micrognathia |
DECIPHER:42 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... |
OMIM:132900 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic... |
OMIM:613102 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Cerebellar vermis hypoplasia, Small hand, Widely spaced teeth, Trigonoceph... |
ORPHA:459061 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Pallor, Hydrocephalus |
ORPHA:163596 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect, Bilateral clef... |
OMIM:618021 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short 5th finger, Microretrognathia, Long philtrum, Tetralogy of Fallot, Atrioventricular canal d... |
ORPHA:508498 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi... |
OMIM:616652 |
| Rhizomelic Syndrome |
|
Microcephaly, Rhizomelia, Micrognathia, Pulmonic stenosis |
OMIM:268250 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Micrognathia, Open mouth, Narrow mouth, Agenesis of corpus callosum, Bicuspid aortic valve, Atria... |
OMIM:619720 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Alopecia, Sparse hair, Pigmentary retinopathy |
ORPHA:3363 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Micrognathia, Mitral val... |
ORPHA:228410 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... |
ORPHA:280679 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Sparse... |
OMIM:618535 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cerebral cortical atrophy, Tooth malposition, Furrowed tongue, Micrognathia, Malar flattening, Sh... |
ORPHA:1387 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Multiple suture craniosynostosis, Secondary microcephaly, Broad secondary alveolar ridge, Trigono... |
ORPHA:3369 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Mandibular prognathia, Plagiocephaly, Long philtrum, Bicuspid aortic valv... |
OMIM:619721 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Microcephaly, Mandibular pr... |
ORPHA:2521 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Frontal bossing, Open mouth, Patent foramen ovale, Brachycephaly, Transposition of... |
OMIM:616789 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai... |
OMIM:194300 |
| Halperin-Birk Syndrome |
|
Micrognathia, Agenesis of corpus callosum, Perimembranous ventricular septal defect, Thick vermil... |
OMIM:618651 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Intestinal malrotation, Micrognathia, Microcephaly, Orofacial cleft, Deep philtrum... |
ORPHA:77300 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... |
ORPHA:136 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Downturned corners of mouth, Long philtrum, Retrognathia, Atrioventricular canal defect, Trigonoc... |
OMIM:613792 |
| Alg12-Cdg |
|
Posterior plagiocephaly, Biventricular hypertrophy, Muscular ventricular septal defect, Intestina... |
ORPHA:79324 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Lower limb muscle... |
ORPHA:90307 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... |
OMIM:613225 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High, narrow palate, Reduced cerebral white matter volume, Hypoplasia of the pons, Cerebral atrop... |
OMIM:608027 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Microcephaly, Craniosynostosis, High palate, C... |
OMIM:201550 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... |
ORPHA:91387 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Cerebral cortical atrophy, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Microcephal... |
OMIM:620240 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... |
OMIM:614669 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Brachycephaly, Thin corpus ... |
OMIM:620200 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Skull asymmetry, Retrognathia, Hypertrophic cardiomyopathy, Secondary microcephaly, ... |
OMIM:612938 |
| Centrifugal Lipodystrophy |
|
Erythema, Alopecia, Scaling skin |
ORPHA:90156 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Secundum atrial septal defect, Aortic root aneurysm, Brachycephaly, Transposition ... |
OMIM:619910 |
| Aminopterin Syndrome Sine Aminopterin |
|
Short thumb, Frontal bossing, Micrognathia, Oligodontia, Microcephaly, Brachycephaly, Macrocephal... |
OMIM:600325 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Ventricula... |
ORPHA:457193 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Beck-Fahrner Syndrome |
|
Long philtrum, Periventricular leukomalacia, Open mouth, Ventricular septal defect, Cardiomegaly,... |
OMIM:618798 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Clark-Baraitser Syndrome |
|
Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Thin upper lip vermilion, Mi... |
OMIM:617752 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Abnormality of the dentition, Long philtrum, Ventricular septal defect, Microcephaly, Smooth phil... |
ORPHA:261190 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Long philtrum, Micrognathia, Malar flattening, Agenesis of corpus callosum, Microc... |
ORPHA:251056 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mesomelia, Mandibular prognathia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Tetralog... |
ORPHA:1908 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Downturned corners of mouth, Micrognathia, Agenesis of corpus callosum, Ventricular s... |
ORPHA:93267 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Micromelia, Hypoplasia... |
ORPHA:85166 |
| Distal Duplication 14Q |
|
Short stature, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Xk Aprosencephaly Syndrome |
|
Narrow mouth, Ventricular septal defect, Microcephaly, Atrial septal defect, Anal atresia |
ORPHA:3469 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Oligohydramnios, Single transverse palmar crease, Neonatal death, 2-3 toe syndac... |
OMIM:236500 |
| Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolonged proth... |
OMIM:227600 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... |
ORPHA:449285 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... |
OMIM:618603 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Short philtrum, Microcephaly, Brachycephaly, High... |
ORPHA:3306 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect |
ORPHA:306550 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Sneddon Syndrome |
|
Arterial stenosis, Hypertension, Intracranial hemorrhage |
ORPHA:820 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Post-partum hemorrhage, Prolonged bleed... |
ORPHA:465 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Focal cortical dysplasia, Hypoplasia of the brainste... |
OMIM:614563 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Micrognathia, Conotruncal defect, Median cleft palate, Aplasia/hyp... |
ORPHA:40366 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension |
OMIM:182410 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Growth delay, Syndactyly |
OMIM:615631 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ... |
ORPHA:978 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Talipes equinovarus, Femoral retrovers... |
OMIM:616531 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Widely spaced teeth, Short finger, Malar flattening, Thin ... |
ORPHA:487825 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Plagiocephaly, Tented upper lip vermilion, A... |
OMIM:614749 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... |
OMIM:211960 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... |
OMIM:208530 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Tessier cleft, Short 5th finger, Cleft upper lip, Abnormal heart morphology, Micrognathia, Narrow... |
OMIM:239800 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Polymicrogyria, Hypoplasia of the brainstem, Open mo... |
OMIM:617751 |
| Dermatopathia Pigmentosa Reticularis |
|
Palmoplantar hyperkeratosis, Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation |
OMIM:125595 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Joint hemorrhage, Abnormal bleeding, Bruising susceptibility, Hemothorax, Abno... |
ORPHA:79 |
| Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Micrognathia, Microcephaly, Thin co... |
ORPHA:544469 |
| Hemophilia B |
|
Joint hemorrhage, Prolonged bleeding after dental extraction, Spontaneous, recurrent epistaxis, C... |
ORPHA:98879 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Cleft soft palate, Micrognathia, Mitral valve prolapse, Vent... |
OMIM:142900 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Talipes eq... |
OMIM:256050 |
| 2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligodontia, Microcephaly, Brachyceph... |
ORPHA:251019 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect |
ORPHA:79094 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Absent septum pellucidum, Bilateral cl... |
OMIM:601357 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Pulmo... |
OMIM:619003 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Abnormal hair morphology, Thin nail, Hy... |
OMIM:242100 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... |
ORPHA:93320 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Growth delay, Pallor |
OMIM:613561 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Microcephaly, Brachycephaly, Anal atresia, Mandibular prognathia |
ORPHA:93950 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Down Syndrome |
|
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular ... |
OMIM:190685 |
| Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Generalized hypopigmentation |
OMIM:113750 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Microcephaly, Plagiocephaly, Everted lower lip vermilion |
OMIM:617768 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Abnormality of the dentition, Small hand... |
ORPHA:1596 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... |
OMIM:611788 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation |
OMIM:601706 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Cerebral cortical atrophy, Downturned corners of mouth, Tetralogy of Fallo... |
ORPHA:96147 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia, Hyperkeratosis |
OMIM:247100 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Br... |
ORPHA:371428 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Hyperkeratosis, Fine hair |
ORPHA:1839 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Ventricular septal defect, Microcephaly, High palate, Cleft palate |
OMIM:609654 |
| Pierpont Syndrome |
|
Short toe, Widely spaced teeth, Short finger, Prominent median palatal raphe, Malar flattening, M... |
OMIM:602342 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ... |
OMIM:612582 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... |
ORPHA:2309 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... |
ORPHA:244 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Dental malocclusion, Gingival overgrowth, Micrognathia, Mitral val... |
OMIM:249420 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Cerebral atrophy, Long philtrum, Narrow mouth, Patent foramen ovale, Mitral valv... |
OMIM:615539 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... |
OMIM:300845 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Bruising susceptibil... |
ORPHA:327 |
| Alopecia Universalis |
|
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... |
ORPHA:701 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair |
ORPHA:2850 |
| Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Narrow mouth, Mitral valve prolapse, Ventricular septal defect, Agenesis of corpus ... |
OMIM:180849 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Hyperkeratosis |
OMIM:607936 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Retrognathia, Long philtrum, Hypoplasia of the corpus callosum, Ventricular septal defect, Thin u... |
OMIM:617452 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Long philtrum, Micrognathia, Unilambdoid synostosis, Hypoplasia of the corpus call... |
OMIM:618577 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Ventricular septa... |
OMIM:613680 |
| Cornelia De Lange Syndrome 5 |
|
Small hand, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Retrognathia, Microg... |
OMIM:300882 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Small hand, Plagiocephaly, Downturned corners of mouth, Prominent occiput, Malar flattening, Hypo... |
OMIM:618672 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Joubert Syndrome 14 |
|
Growth delay, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial ... |
OMIM:614424 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Cerebral atrophy, Micrognathia, Malar flattening, Abnormal septum pellucidum morph... |
ORPHA:171839 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Endocardial fibroelastosis, Narrow mouth, Tricuspid valve prolapse, Hypodontia, Sm... |
ORPHA:1973 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Abnormal heart morphology, Scaphocephaly, Plagiocephaly, Micrognathia |
ORPHA:1143 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Agenesis of corpus ca... |
OMIM:210710 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dental crowding, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
ORPHA:320385 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Bronchiolitis, Polydactyly |
OMIM:615993 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Renal Tubular Dysgenesis |
|
Polyhydramnios, Oligohydramnios, Bilateral single transverse palmar creases, Pulmonary hypoplasia |
ORPHA:3033 |
| Even-Plus Syndrome |
|
Patent foramen ovale, Agenesis of corpus callosum, Dysplastic corpus callosum, Hypodontia, Brachy... |
OMIM:616854 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Alopecia, Sparse body hair |
ORPHA:177 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Cerebellar vermis hypoplasia, Brachycephaly, Turricephaly |
ORPHA:1532 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Open mouth, Ventricular septal defect, Everted lower lip vermilion, Reduced cerebral white matter... |
OMIM:280000 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Microcephaly, Multiple muscular ventricular septal defects, Pulmonic stenosis, Eosinophilic infil... |
OMIM:615508 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection |
OMIM:613780 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Small hand, Secondary microcephaly, Micrognathia, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:610759 |
| Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Hypoplasia of the corpus callosum, A... |
OMIM:300887 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Bifid uvula, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Intestinal ma... |
ORPHA:404440 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
| Zechi-Ceide Syndrome |
|
Cerebellar vermis hypoplasia, Short distal phalanx of finger, Cleft lip, Downturned corners of mo... |
ORPHA:217017 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding f... |
ORPHA:35909 |
| Methimazole Embryofetopathy |
|
Calvarial skull defect, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aor... |
ORPHA:1923 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Al Kaissi Syndrome |
|
High, narrow palate, Small hand, Long philtrum, Macrodontia, Hypoplasia of the corpus callosum, T... |
OMIM:617694 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Bifid uvula, Small hand, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Na... |
OMIM:618089 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... |
ORPHA:494424 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Parietal foramina, Micrognathia, Brachycephaly, Short philtrum |
ORPHA:52022 |
| Craniosynostosis 6 |
|
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Agenesis of... |
OMIM:616602 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Alopecia |
OMIM:616576 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:277580 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Sparse eyelashes, Parakeratosis, Thick hair, ... |
OMIM:607626 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cerebral cortical atrophy, Retrognathia, Long philtrum, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:505237 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Micrognathia, Microcephaly, Tooth agenesis |
ORPHA:1964 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, High palate, Brachycephaly, Ventricular septal defect |
OMIM:619995 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, Abnormal hear... |
ORPHA:137667 |
| Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Brachydactyly, Short long bone, Polyhydramnios, Recurrent respiratory infe... |
OMIM:615633 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Dental crowding, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
OMIM:615031 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis |
OMIM:602531 |
| Braddock-Carey Syndrome 1 |
|
Small hand, Anteriorly placed anus, Agenesis of corpus callosum, Aortic valve prolapse, Microceph... |
OMIM:619980 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Sézary Syndrome |
|
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Nail dystrophy |
ORPHA:3162 |
| Enlarged Parietal Foramina |
|
Cleft lip, Parietal foramina, Venous malformation, Abnormal cerebral vein morphology, Short clavi... |
ORPHA:60015 |
| Stevenson-Carey Syndrome |
|
Downturned corners of mouth, Narrow mouth, Hypoplasia of the corpus callosum, Cerebellar hypoplas... |
OMIM:611961 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Unilateral cleft lip, Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defect, Cardi... |
OMIM:616897 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... |
ORPHA:2930 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... |
ORPHA:90065 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Cerebellar vermis hypoplasia, Natal tooth, Trigonocephaly, Scaphocephaly, Micrognathia, Ventricul... |
OMIM:616901 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot... |
ORPHA:99147 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Diastema, Micrognathia, Hypoplasia of the corpus callosum, Short ph... |
OMIM:609757 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Alopecia, Sparse eyebrow, Sparse eyelashes |
OMIM:615704 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Brachycephaly, Atria... |
ORPHA:1790 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Sparse ... |
ORPHA:659 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Micrognathia, Narrow mouth, Microcephaly, Brachycephaly, Deep philtrum, Thick vermilion border, S... |
OMIM:615834 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Agenesis of corpus callosum... |
OMIM:174300 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Occipital encephalocele, Postaxial foot polydactyly, Micromelia, Hydrocephalus, P... |
OMIM:241800 |
| Chopra-Amiel-Gordon Syndrome |
|
Cleft lip, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Brachycephaly, Macrocephaly, ... |
OMIM:619504 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Spina bifida occulta, ... |
OMIM:618291 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the pons, Downturned corners of mouth, Tetral... |
ORPHA:163956 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... |
ORPHA:3405 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Downturned corners of mouth, Hypoplasia of the corpus callosum, Brachy... |
OMIM:618859 |
| Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis |
ORPHA:140989 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Tetralogy of Fallot, Intestinal mal... |
OMIM:614701 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail |
OMIM:609638 |
| Wrinkly Skin Syndrome |
|
Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Muscular ventricular ... |
OMIM:278250 |
| Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia |
ORPHA:3032 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Plagiocephaly, Downturned corners of mouth, Widely spaced teeth, Abnormal ... |
ORPHA:369891 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Scaphocephaly, Micrognathia, Mitral valve prolapse, Ventricular septal defe... |
OMIM:121050 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Situs inversus totalis |
OMIM:615985 |
| Odontochondrodysplasia 1 |
|
Mesomelia, Metaphyseal cupping, Micromelia, Recurrent respiratory infections, Irregular epiphyses... |
OMIM:184260 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissenc... |
ORPHA:272 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy, Bilateral basal ganglia lesions |
ORPHA:66634 |
| Fetal Alcohol Syndrome |
|
Micrognathia, Microdontia, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Atrial septal... |
ORPHA:1915 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased calvarial ossification, Cran... |
OMIM:618265 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Cerebral cortical atrophy, Downturned corners of mouth, Hypoplasia of the corpus callosum, Cerebe... |
ORPHA:352530 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Excessive wrinkled skin, Abnorm... |
ORPHA:3051 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Lambotte Syndrome |
|
Microcephaly, Narrow mouth, Retrognathia, Ventricular septal defect |
OMIM:245552 |
| Aplasia Cutis Congenita |
|
Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Skin ulcer |
ORPHA:1114 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Cleft palate, Hypoplasia of the corpus callosum, Ventricular septal defect |
OMIM:620210 |
| Joubert Syndrome 18 |
|
Retrognathia, Agenesis of corpus callosum, Ventricular septal defect, Agenesis of cerebellar verm... |
OMIM:614815 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:79394 |
| Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... |
OMIM:192430 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... |
OMIM:607823 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Internally rotated shoulders, Elbow flexion contracture, Hip contracture, Talipes equinovarus, Sc... |
OMIM:617468 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Hypoplasia of the maxilla, Secondary microcephaly, Trigonocephaly, Micrognathia, Malar flattening... |
ORPHA:79113 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septa... |
OMIM:608572 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Cerebral atroph... |
OMIM:201000 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Short middle phalanx of toe, Malar ... |
OMIM:602849 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Malar flattening, Microcephaly, Brachycephaly, Abnormal zygomatic bone morp... |
ORPHA:2511 |
| 1Q44 Microdeletion Syndrome |
|
Frontal bossing, Intestinal malrotation, Micrognathia, Exaggerated cupid's bow, Agenesis of corpu... |
ORPHA:238769 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Narrow mouth, Micrognathia, Ventricular septal defect, High palate, Hypoplasti... |
OMIM:619503 |
| Charge Syndrome |
|
Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, A... |
OMIM:214800 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly, Aganglionic m... |
ORPHA:452 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Endocardial fibroelastosis, Mitral regurgitation, Coarctation of abdominal aorta |
OMIM:226100 |
| 3C Syndrome |
|
Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,... |
ORPHA:7 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Micrognathia, Thin upper lip vermilion, Microcephaly, Brachycephaly, Smooth philtrum, Wide mouth |
OMIM:615419 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Plagiocephaly, Long philtrum, Cavum septum pellucidum, Abnor... |
ORPHA:457279 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Secundum atrial septal defect |
ORPHA:96190 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Schisis Association |
|
Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Ventricular septal defect, ... |
OMIM:300855 |
| Craniofrontonasal Dysplasia |
|
Abnormality of the dentition, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Oro... |
ORPHA:1520 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Conotruncal defect, Protruding tongue, Malar flattenin... |
OMIM:610253 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Delayed proximal femoral epiphysea... |
ORPHA:93296 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Brachyturricephaly, Retrognathia, Micrognathia, Narrow mouth, Diffuse c... |
ORPHA:83617 |
| Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Cutis laxa, Brittle hair, Sparse hair |
OMIM:309400 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:1120 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge... |
ORPHA:1867 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Malar flattening, Ventricular septal defect, Missing ribs, Brachycephaly,... |
ORPHA:1488 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Frontal cortical atrophy, Macrocephaly |
OMIM:300699 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of cerebral white ma... |
ORPHA:99802 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Trigonocephaly, Micrognathia, Malar flattening, Ventricular septal defect, Microcephaly, Progress... |
OMIM:610536 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Hepatomegal... |
OMIM:266200 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Long philtrum, Frontal bossing, Wide mouth, Malar flattening, Abnormal mitral valve morphology, M... |
ORPHA:1292 |
| Verheij Syndrome |
|
Short 5th finger, Retrognathia, Cerebral atrophy, Long philtrum, Truncus arteriosus, Ventricular ... |
OMIM:615583 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Abnormal heart morphology, Micrognathia, Microcephaly, Brachycephaly, Smooth philtrum |
OMIM:263210 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Hypoglossia With Situs Inversus |
|
Microglossia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypodontia, High palate |
OMIM:612776 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
| Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Bicoronal synostosis, Agenesis... |
OMIM:618736 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:615228 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Brachycephaly, Double outlet right ventricle, Atrial septal defect, Narrow palate, Cle... |
OMIM:618223 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Craniosynostosis, Cleft ... |
ORPHA:2145 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... |
ORPHA:3437 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Open mouth, Irregular dentition, Agenesis of corpus callosum, Anal atresia, High pa... |
OMIM:619148 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, 11 pairs of ribs, Anteriorly placed anus, Ventricular septal defect |
OMIM:618624 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Downturned corners of mouth, Retrogna... |
ORPHA:2409 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cerebral cortical atrophy, Short distal phalanx of finger, Plagiocephaly, Downturned corners of m... |
OMIM:239300 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Media... |
OMIM:177850 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra... |
OMIM:604757 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme... |
OMIM:151210 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Micromelia, Ascites, ... |
OMIM:614091 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Freckling, Dermal translucency, Spa... |
OMIM:137940 |
| Hemoglobin D Disease |
|
Pallor, Splenomegaly |
ORPHA:90039 |
| Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Plagiocephaly, Tented upper lip vermilion, Cerebral atrophy |
OMIM:618008 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail |
ORPHA:257 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Abnormal hea... |
ORPHA:261652 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebral cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Abnorm... |
OMIM:617481 |
| Williams Syndrome |
|
Carious teeth, Open bite, Micrognathia, Mitral valve prolapse, Ventricular septal defect, Bicuspi... |
ORPHA:904 |
| Fg Syndrome Type 1 |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Open mouth, Mitral valve prolapse, Atria... |
ORPHA:93932 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Plagiocephaly, Downturned corners of mouth, Thick upper lip vermilion, Pro... |
OMIM:617360 |
| Kleefstra Syndrome |
|
Cerebral cortical atrophy, Downturned corners of mouth, Delayed eruption of teeth, Tetralogy of F... |
ORPHA:261494 |
| Kury-Isidor Syndrome |
|
Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Ventricular septal defect, Triang... |
OMIM:619762 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Flattened epiphysis, Ta... |
OMIM:607131 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Anal atresia, Abnormal palate morphology |
ORPHA:1381 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Narr... |
OMIM:202650 |
| Aase-Smith Syndrome I |
|
Cleft palate, Open mouth, Dandy-Walker malformation, Ventricular septal defect |
OMIM:147800 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... |
OMIM:605714 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Pericardial effusion |
OMIM:613885 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro... |
OMIM:619472 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Micromelia, Increased nuchal translucency, Abnormal sacroiliac joint m... |
ORPHA:2655 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Downturned corners of mouth, Polymicrogyria, Tooth agenesis, Macrodontia, Cerebell... |
OMIM:618731 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... |
OMIM:187600 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Downturned corners of mouth, Cerebral atrophy, ... |
OMIM:220500 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly |
ORPHA:848 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
| Fetal Gaucher Disease |
|
Neonatal death, Stillbirth, Intracranial hemorrhage, Arthrogryposis multiplex congenita, Flexion ... |
ORPHA:85212 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip, Ventricular septal defect |
OMIM:214300 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microcephaly, High palate, Wide mouth |
OMIM:613398 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
| Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Parietal foramina, Turricephaly, Brachycephaly, Short philtrum |
OMIM:601224 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Small hand, Natal tooth, Aortic root aneurysm, Long philtrum, Dental cr... |
OMIM:145420 |
| X-Linked Intellectual Disability, Wilson Type |
|
Wide mouth, Microcephaly, Brachycephaly, Thick vermilion border, Mandibular prognathia |
ORPHA:85290 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Hematochezia, Vascular dilatation |
OMIM:277175 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair |
ORPHA:69735 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Agenesis of corpus callosum... |
OMIM:309520 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Cleft lip, Atrioventricular canal defect, Micrognathia, Ventricular... |
OMIM:619123 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Alopecia |
OMIM:203550 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Secondary microcephaly, 11 pairs of ribs, Micrognathia, Hypoplasia ... |
OMIM:620073 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Brachycephaly, Short corpus callosum, Long philtrum |
OMIM:619972 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Gingival overgrowth, O... |
OMIM:212066 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Hypoplasia of the odontoid process, Micrognathia, Malar flattening, Smooth philtrum, ... |
OMIM:264180 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Venous insufficiency, Arrhythmia, Intracranial he... |
ORPHA:624 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis |
OMIM:614564 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Meckel Syndrome 14 |
|
Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitatio... |
OMIM:619879 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
| Incontinentia Pigmenti |
|
Erythema, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplas... |
OMIM:308300 |
| Atelosteogenesis Type Ii |
|
Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, T... |
ORPHA:56304 |
| Smith-Magenis Syndrome |
|
Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Abnormal... |
OMIM:182290 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Calvarial skull defect, Truncus arteriosus, Ventricular septal defect, Esophag... |
OMIM:616589 |
| Orofacial Cleft 13 |
|
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia |
OMIM:613857 |
| Nephrotic Syndrome, Type 11 |
|
Cleft lip, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Smooth philtrum, High... |
OMIM:616730 |
| Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Retrognathia, Abnormal lip morphology, Abnormal upper lip morphology, Microg... |
ORPHA:2707 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Gastric diverticulum, Adenomatous coloni... |
ORPHA:157798 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Lower limb undergrowth, Upper limb undergrowth |
OMIM:613630 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| 19P13.12 Microdeletion Syndrome |
|
Long philtrum, Hypoplasia of the corpus callosum, Ventricular septal defect, Microcephaly, Hypodo... |
ORPHA:254346 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Tyshchenko Syndrome |
|
High, narrow palate, Narrow palate, Hypoplasia of the corpus callosum, Ventricular septal defect,... |
OMIM:615102 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Hyperpigmentation of the skin, Brittle hair |
ORPHA:50812 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Cerebral atrophy, Mitral atresia, Ventricular sept... |
OMIM:618164 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Thick lower lip vermilion, Tented upper lip vermilion, Brachycephaly, High... |
OMIM:615828 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Hyperekplexia 2 |
|
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response |
OMIM:614619 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Meningocele, Anencephaly, Encephalocele |
OMIM:611134 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Stroke-like episode, Focal T2 hyperintens... |
ORPHA:70472 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Trigonocephaly, Ventricular septal defe... |
OMIM:617159 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyebrow, Dry skin, Sparse eyelashes, Hyperkeratosis |
OMIM:610768 |
| Doors Syndrome |
|
Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2nd toe, High pala... |
ORPHA:79500 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, Agenesis of corpus callosum, Ventricular septal defect, Macrocephaly, High palate, ... |
ORPHA:52055 |
| Monosomy 18P |
|
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Microcephaly, Hypodo... |
ORPHA:1598 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Muenke Syndrome |
|
High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Malar flattening, Brachycephaly, Ma... |
ORPHA:53271 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276556 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Global brain atrophy, Plagiocephaly, Cerebral atrophy, Open mouth, Hypoplasia of the corpus callo... |
OMIM:616801 |
| Parietal Foramina 1 |
|
Cleft palate, Parietal foramina, Cleft upper lip, Macrocephaly |
OMIM:168500 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydacty... |
OMIM:615503 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Temporal cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Thin upper lip vermi... |
OMIM:618862 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Chime Syndrome |
|
Cerebral cortical atrophy, Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of t... |
ORPHA:3474 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Cerebral atrophy, Long philtrum, Frontal bossing, Villous atrophy, Microcep... |
OMIM:608776 |
| Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Microcephaly, Smooth philtrum, Transposition of the great arteries, Eve... |
OMIM:617982 |
| Alpha-Heavy Chain Disease |
|
Alopecia |
ORPHA:100025 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Turricephaly, Brachyceph... |
ORPHA:93262 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Dental crowding, Downturned corners of mouth, Long philtrum, Micrognathia, Thin upper lip vermili... |
OMIM:615761 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Dental malocclusion, Downturned corners of mouth, Short toe, Open... |
ORPHA:1327 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Cebalid Syndrome |
|
Plagiocephaly, Platystencephaly, Polymicrogyria, Turricephaly, Brachycephaly, Dolichocephaly, Hig... |
OMIM:618774 |
| Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Hypoplasia of the corpus... |
OMIM:300166 |
| Familial Benign Chronic Pemphigus |
|
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Retrognathia, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, M... |
OMIM:617926 |
| Distal Deletion 3P |
|
Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Micrognathia, Microcep... |
ORPHA:1620 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, High palate, Dolichocephaly, Short phi... |
OMIM:615433 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Scaphocephaly, Micrognathia, Ventricular septal defect, Microcephaly... |
OMIM:616777 |
| 3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Ventricular septal defect, Microcephaly, Ectopic anus, Deep philtru... |
ORPHA:251038 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Intestinal malrotation, Wide mouth, Ventricular septal defect, Hyperinte... |
OMIM:617798 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Brachyturricephaly, Cardiomyopathy, Hyperplasia of the maxilla, Hypertro... |
OMIM:300280 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydactyly, Flat ace... |
OMIM:617102 |
| Galloway-Mowat Syndrome 7 |
|
Cleft lip, Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Microcephaly, Smooth ... |
OMIM:618348 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Distal Duplication 5Q |
|
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Ventricular septal defect... |
ORPHA:96097 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... |
ORPHA:251274 |
| Xq28 (MECP2) duplication |
|
Narrow mouth, Malar flattening, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly |
DECIPHER:45 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... |
OMIM:175050 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, Widely spaced teeth, Trigonocephaly, Tented upper lip vermilion, Ventricular sep... |
OMIM:612530 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... |
ORPHA:251393 |
| Achard Syndrome |
|
Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Bicu... |
OMIM:616367 |
| Band Heterotopia |
|
Plagiocephaly, Polymicrogyria, Agenesis of corpus callosum, Macrocephaly, Subcortical band hetero... |
OMIM:600348 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ... |
OMIM:617168 |
| Toriello-Carey Syndrome |
|
Abnormal corpus callosum morphology, Cardiomyopathy, Cerebral atrophy, Tetralogy of Fallot, Anter... |
ORPHA:3338 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor |
ORPHA:276580 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
| 2Q23.1 Microdeletion Syndrome |
|
Macrodontia, Tented upper lip vermilion, Open mouth, Malar flattening, Microcephaly, Brachycephal... |
ORPHA:228402 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
| Seckel Syndrome 5 |
|
Abnormal cortical gyration, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathi... |
OMIM:613823 |
| Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Aortic root aneurysm, Retrognathia, Cleft soft palate, Tented upper lip vermilion, P... |
OMIM:615582 |
| Grant Syndrome |
|
Open bite, Micrognathia, Abnormal palate morphology, Brachycephaly, Frontal bossing |
ORPHA:2097 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Brachycephaly, Craniosynostosis, High palate, Frontal bossing, Pyloric ... |
ORPHA:314575 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation |
OMIM:616353 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... |
OMIM:620300 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis |
OMIM:615812 |
| Kapur-Toriello Syndrome |
|
Polymicrogyria, Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Dysplasti... |
ORPHA:2328 |
| Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Splenomegaly, Hepato... |
ORPHA:507 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Anteriorly placed anus, Mic... |
ORPHA:1225 |
| Fryns Syndrome |
|
Micrognathia, Agenesis of corpus callosum, Anal atresia, High palate, Non-midline cleft of the up... |
ORPHA:2059 |
| Hyperekplexia 3 |
|
Hiatus hernia, Gastroesophageal reflux, Exaggerated startle response |
OMIM:614618 |
| Noonan Syndrome 13 |
|
Plagiocephaly, Long philtrum, Widely spaced teeth, Micrognathia, Mitral valve prolapse, Microdont... |
OMIM:619087 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage |
ORPHA:49566 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Petechiae, Hepatomegal... |
ORPHA:824 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly |
ORPHA:35099 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Median ... |
OMIM:617746 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Thin upper lip vermilion, Microcephaly, Brachycephaly, Smooth philtrum |
OMIM:620688 |
| X-Linked Intellectual Disability, Armfield Type |
|
Cerebral cortical atrophy, Small hand, Mandibular prognathia, Downturned corners of mouth, Microg... |
ORPHA:85276 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Neonatal death, Hand polydactyly, Hydrocephalus, Absent radius, Polyhydramnios, Pr... |
OMIM:314390 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... |
OMIM:614175 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa... |
OMIM:187300 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Bicuspid aortic va... |
OMIM:265380 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect, Frontal bossing, Thin upper lip vermilion, Brachycephaly, Wide mouth |
OMIM:608688 |
| Lethal Congenital Contracture Syndrome 1 |
|
Pulmonary hypoplasia, Edema, Neonatal death |
OMIM:253310 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Abnormality of the dentition, Restrictive cardiomyopathy, Downturned... |
OMIM:615398 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Oligohydramnios, Humeroradial synostosis, Ne... |
OMIM:251230 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... |
OMIM:135580 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Pulmonary hypoplasia, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly, Mandibular prognathia |
OMIM:615516 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Oligohydramnios, Femo... |
OMIM:615415 |
| Cardiospondylocarpofacial Syndrome |
|
Long philtrum, Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid val... |
OMIM:157800 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly, Growth delay |
OMIM:615234 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Dental crowding, Frontal bossing |
OMIM:619264 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Peripheral pulmonary artery stenosis, Abnormality of the dentition, Delayed er... |
ORPHA:2712 |
| Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly, Small hand, Tented upper lip vermilion, Hypoplasia of the corpus callosu... |
OMIM:620149 |
| Say Syndrome |
|
Microcephaly, Micrognathia, Short distal phalanx of finger, Cleft palate |
OMIM:181180 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Premature graying of hair, Partial albinism, Petechiae, Hypopigmentation o... |
ORPHA:79477 |
| Recombinant 8 Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Tetralogy of Fallot, ... |
ORPHA:96167 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... |
ORPHA:137888 |
| Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy, Prominent occiput, Micrognathia, Microdontia, Thin upper lip vermilion, M... |
OMIM:603736 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons, Macrocephaly |
OMIM:607313 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... |
OMIM:129400 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Abnormal dental morphology, ... |
OMIM:277600 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Patent foramen... |
OMIM:619184 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Microgn... |
ORPHA:2257 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Microglossia, Plagiocephaly, Retrognathia, Hypoplasia of the brainstem, Micrognathia, Microcephal... |
OMIM:254940 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Long philtrum, Hypertrophic cardiomyopathy, Thick ve... |
OMIM:619383 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Micrognathia, Cerebellar hypoplasia, Microcephaly, Short philtrum, Thin upper lip ... |
OMIM:619188 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ischia, Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Clubbing of fingers, Broa... |
ORPHA:1865 |
| White-Sutton Syndrome |
|
Bifid uvula, Hypoplastic cervical vertebrae, Downturned corners of mouth, Cerebral atrophy, Micro... |
OMIM:616364 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Plagiocephaly, Downturned corners of mouth, Abnormal heart morphology, Atrioventricu... |
ORPHA:453499 |
| Summitt Syndrome |
|
Plagiocephaly, Short 4th metacarpal, Macrocephaly, Craniosynostosis, Short palm |
ORPHA:3210 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Multiple suture craniosynostosis, Turricephaly, Cerebellar hypoplasia,... |
ORPHA:207 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Malar flattening, Microcephaly, Brachycephaly, Mandibular prognathia, Cleft palate |
OMIM:268850 |
| Marshall Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p... |
ORPHA:560 |
| Wolcott-Rallison Syndrome |
|
Microcephaly, Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Kaufman Oculocerebrofacial Syndrome |
|
Carious teeth, Diastema, Intestinal malrotation, Micrognathia, Narrow mouth, Hypoplasia of the co... |
OMIM:244450 |
| Osteogenesis Imperfecta, Type Xx |
|
Plagiocephaly, Retrognathia, Agenesis of permanent teeth, Tented upper lip vermilion, Microcephal... |
OMIM:618644 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... |
ORPHA:231222 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Macrocephaly |
OMIM:618725 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Ventricul... |
ORPHA:1335 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Plagiocephaly, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Agen... |
OMIM:613457 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
| Acrodermatitis Enteropathica |
|
Erythema, Alopecia, Ridged fingernail, Skin ulcer, Abnormal eyebrow morphology, Ridged nail, Dry ... |
ORPHA:37 |
| Tetraploidy |
|
Micrognathia, Microcephaly, Short philtrum, Biparietal narrowing, Cleft palate |
ORPHA:3305 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... |
ORPHA:3253 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Skull asymmetry, Malar flattening, Turricephaly, Smooth philtrum, B... |
OMIM:601853 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Plagiocephaly, Microretrognathia, Hypoplasia of the zygomatic bone, Turric... |
OMIM:613603 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul... |
OMIM:115470 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Long philtrum, Micrognathia, Malar flattening, Agenesis of corpus callosum, ... |
OMIM:257300 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Micrognathia, Anterior pla... |
ORPHA:163649 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr... |
ORPHA:615 |
| Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Solitary median maxillary central in... |
OMIM:602418 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Propionic Acidemia |
|
Short stature, Cerebellar hemorrhage, Limb hypertonia, Cardiomyopathy |
OMIM:606054 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Aplastic clavicle, Plagiocephaly, Parietal foramina, Frontal bossing, A... |
ORPHA:85199 |
| Larsen-Like Syndrome |
|
Dental malocclusion, Malar flattening, Brachycephaly, Macrocephaly, Frontal bossing, Cleft palate |
OMIM:608545 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Retinal ... |
OMIM:615368 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Long philtrum, Tented upper lip vermilion, Agenesis of cor... |
OMIM:619244 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Intrauterine growth retardation, Ventricular septal de... |
ORPHA:2876 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Dental malocclusion, Hypoplasia of the pons, Widel... |
OMIM:619293 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Hypoplastic scapulae, Carious teeth, Mandibula... |
ORPHA:1452 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Intellectual Disability-Strabismus Syndrome |
|
Abnormality of the dentition, Plagiocephaly, Micrognathia, Hypoplasia of the corpus callosum, Age... |
ORPHA:363528 |
| Meckel Syndrome, Type 6 |
|
Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Bilobed right lung, Hyd... |
OMIM:612284 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Biparietal narrowing, Non-midline cleft o... |
ORPHA:1770 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Small hand, Restrictive cardiomyopathy, Micrognathia, Cerebellar hypoplasia, Microcephaly, Primar... |
OMIM:616051 |
| Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia |
OMIM:600705 |
| Isotretinoin Syndrome |
|
Micrognathia, Biparietal narrowing, Cleft palate |
ORPHA:2305 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Achondroplasia |
|
Rhizomelia, Pulmonary hypoplasia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand,... |
OMIM:100800 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Rhizomelia, Aplasia/Hypoplasia of the corpus callosum, P... |
OMIM:602398 |
| Weiss-Kruszka Syndrome |
|
Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, Ventricular septal ... |
OMIM:618619 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... |
ORPHA:99901 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Abnormal heart morphology, Trigonocephaly, Micrognathia, Ventricula... |
OMIM:608739 |
| Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarcta... |
OMIM:600460 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... |
OMIM:601005 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... |
ORPHA:238468 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Microcephaly, Brachycephaly |
OMIM:309541 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:56425 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Tessier cleft, Brachyturricephaly, Cleft upper lip, Short foot, Frontal boss... |
OMIM:607597 |
| Genitopalatocardiac Syndrome |
|
Downturned corners of mouth, Micrognathia, Microcephaly, Abnormal cardiac septum morphology, Non-... |
ORPHA:2075 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... |
ORPHA:363618 |
| Stormorken Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myopathy, Subarachnoi... |
OMIM:185070 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly |
OMIM:615996 |
| Turnpenny-Fry Syndrome |
|
Small hand, Narrow mouth, Mitral valve prolapse, Hypoplasia of the corpus callosum, Atrial septal... |
OMIM:618371 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... |
OMIM:608670 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hydrocephalus, Syndactyly |
OMIM:602501 |
| Mosaic Trisomy 1 |
|
Hand clenching, Pulmonary hypoplasia, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptod... |
ORPHA:1692 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Arterial stenosis, Intraute... |
ORPHA:565 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Macrodontia of permanent maxillary central incisor, Narrow palate, ... |
ORPHA:364028 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Long philtrum, Micrognathia, Malar flattening, Ventricular septal defect, Thicke... |
OMIM:130720 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth... |
ORPHA:2063 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus |
OMIM:612079 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ... |
OMIM:603116 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Diastema, Microdontia, Deep philtrum, Talon cusp, Short metatarsal, Short metacarp... |
OMIM:605282 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Postaxial polydactyly, Hypoplasia of the radi... |
OMIM:617895 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Micrognathia, Ventricular s... |
ORPHA:52 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hemimegalencephaly, Abnormal dental morphology, Coarctation of aorta, Cranial asymmetry, Abnormal... |
OMIM:163200 |
| Mirage Syndrome |
|
Intrauterine growth retardation, Petechiae, Hydrocephalus, Short stature, Intracranial hemorrhage... |
OMIM:617053 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Cerebral hemorrhage, Petechiae, Bradycardia, Patent ductus arteriosus |
OMIM:617397 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Tetralogy of Fallot, Micrognathia, Submucous cleft hard palate, Short humerus, Microc... |
OMIM:222765 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Polymicrogyria, 11 pairs of ribs, Median cleft palate, Complete atrioventricular... |
OMIM:264480 |
| Desmosterolosis |
|
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Retrognathia, Micromelia, Polymicrogyria,... |
ORPHA:35107 |
| Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Bruising susceptibility, Ecchymosis, Or... |
ORPHA:324636 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Small hand, Micrognathia, Hypoplastic frontal sinuses, Ventricular septa... |
OMIM:300712 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Micromelia, Neonatal death, Bowing of the long bones, Talipes equinovaru... |
OMIM:224410 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Hepatosplenomegaly, Pallor |
OMIM:611590 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Open mouth,... |
OMIM:200990 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormal hip bone morphology, Polyhydramnios, Abnormality of the elbow, Pulmon... |
ORPHA:1486 |
| Triploidy |
|
Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Micrognathia, Narrow mouth, Ab... |
ORPHA:3376 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... |
OMIM:608978 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Nail dystrophy, Brittle hair |
ORPHA:75389 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Short finger, Abnormal heart morphology, Micrognathia, Irregular dentition, Smooth... |
OMIM:615656 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Corticospinal tract hypoplasia, Cleft upper lip, Aplasia/Hypoplasia of the... |
ORPHA:819 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Microcephaly, Brach... |
OMIM:156610 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Skin ulcer, Hypersplenism, Hepatosplenomegaly, Pallor, Splenomegaly, Genu valgu... |
ORPHA:231226 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Abnormal cortical gyration, Abnormality of the dentition, Small hand, Long philtrum,... |
OMIM:300968 |
| Malan Overgrowth Syndrome |
|
Plagiocephaly, Hypoplasia of the brainstem, Scaphocephaly, Narrow mouth, Hypoplasia of the corpus... |
ORPHA:420179 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Oligohydramnios, Hypertension, Pulmonary hypoplasia |
OMIM:616733 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Plagiocephaly, Long philtrum, Atrial... |
ORPHA:251061 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Sparse hair, Palmoplantar keratoderma, Fragile nails |
OMIM:242150 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ... |
ORPHA:210122 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time |
ORPHA:3226 |
| Acrofrontofacionasal Dysostosis |
|
Cerebral cortical atrophy, Short distal phalanx of finger, Micromelia, Brachycephaly, Everted low... |
ORPHA:1784 |
| Tetrasomy 5P |
|
Congestive heart failure, Overlapping toe, Clinodactyly of the 5th finger, Talipes equinovarus, P... |
ORPHA:3309 |
| Giant Cell Arteritis |
|
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... |
ORPHA:397 |
| Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Micrognath... |
OMIM:617822 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
| Johnson Neuroectodermal Syndrome |
|
Carious teeth, Tetralogy of Fallot, Microcephaly, Everted lower lip vermilion, Cleft palate |
ORPHA:2316 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Pulmonary hypoplasia, Short toe, Atelectasis, Short finger, Ascites, Bowing... |
OMIM:269860 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Renal artery atheros... |
ORPHA:565612 |
| Tangier Disease |
|
Left ventricular hypertrophy, Carotid artery stenosis, Coronary artery stenosis, Accelerated athe... |
ORPHA:31150 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Situs i... |
OMIM:613686 |
| Martsolf Syndrome 1 |
|
Tooth malposition, Hypoplasia of the maxilla, Short toe, Cardiomyopathy, Long philtrum, Micrognat... |
OMIM:212720 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Polymicrogyria, Tetralogy of Fall... |
OMIM:100300 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Plagiocephaly, Micrognathia, Tented upper lip vermilion, Hypoplasia of the corpus cal... |
ORPHA:371364 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... |
ORPHA:3097 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Large placenta, Neonatal death, Diaphyseal undertubula... |
OMIM:215140 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short toe, Malar flattening, Brachycephaly, Subvalvular aortic stenosis, Short fourth metatarsal,... |
OMIM:600430 |
| Opitz Gbbb Syndrome |
|
Cerebellar vermis hypoplasia, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Agene... |
OMIM:300000 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Cerebellar vermis hypoplasia, Mandibular prognathia, Downturned corners of mouth, Retrognathia, W... |
OMIM:156200 |
| Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
| De Barsy Syndrome |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Delayed eruption of teeth, Pro... |
ORPHA:2962 |
| Achondrogenesis, Type Ia |
|
Hypoplastic ischia, Hypoplastic scapulae, Pulmonary hypoplasia, Severe limb shortening, Abnormal ... |
OMIM:200600 |
| Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Micrognathia, High palate, Cerebellar hypoplasia, Microcep... |
ORPHA:96148 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Hamamy Syndrome |
|
Dental malocclusion, Long philtrum, Micrognathia, Complete atrioventricular canal defect, Thin up... |
OMIM:611174 |
| Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ascites, Umbilical hernia, Respiratory tract infection, Polydactyly, Telangiectasia... |
ORPHA:93400 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Prolidase Deficiency |
|
Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f... |
ORPHA:742 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Long philtrum, Thick vermilion border, Micrognathia, Patent foramen o... |
OMIM:619268 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Mesomelia, Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly... |
OMIM:616894 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... |
OMIM:620278 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... |
ORPHA:352731 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth |
OMIM:241500 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| You-Hoover-Fong Syndrome |
|
Microcephaly, Coarctation of aorta, Double aortic arch, Cleft palate, Vascular ring, Accessory or... |
OMIM:616954 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Anencephaly, Patent ductus ... |
OMIM:313850 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Polydactyly, Pancreatic cysts |
OMIM:616307 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
| Coffin-Siris Syndrome 4 |
|
Short 5th finger, Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermi... |
OMIM:614609 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central... |
ORPHA:66625 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Cerebellar hypoplasia, Coarctation of aorta, Aortic... |
OMIM:606519 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Retinal hemorrhage, Patent... |
OMIM:620371 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Small hand, Type II lissencephaly, Abnormal basal ganglia morphology, Micrognathia, Hypoplasia of... |
ORPHA:300570 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly |
OMIM:613464 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Short toe, Long philtrum, Upper limb undergrowt... |
ORPHA:439822 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Lack of skin elasticity |
ORPHA:79254 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft lip, Natal tooth, Short tibia, Tetralogy of Fallot, Hamartoma of tongue, Micrognathia, Comp... |
OMIM:617925 |
| Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
| Raine Syndrome |
|
Mandibular prognathia, Plagiocephaly, Natal tooth, Brachyturricephaly, Micromelia, Cerebral calci... |
OMIM:259775 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Talipes equinovarus, Adducted thumb, Congenital finger flexion contractures, Tapered finger |
ORPHA:536516 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Tooth malposition, Narrow palate, Hypoplasia of the maxilla, Short finger,... |
OMIM:608328 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Opitz-Kaveggia Syndrome |
|
Narrow palate, Anal stenosis, Plagiocephaly, Dental crowding, Long philtrum, Cleft upper lip, Abn... |
OMIM:305450 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Narrow palate, Downturned corners of mouth, Long philtrum, Probosci... |
OMIM:605627 |
| Myelofibrosis |
|
Hepatomegaly, Purpura, Pallor, Splenomegaly |
OMIM:254450 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Renal Hypodysplasia/Aplasia 1 |
|
Talipes equinovarus, Oligohydramnios, Hypertension, Pulmonary hypoplasia |
OMIM:191830 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Mesomelia, Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Den... |
OMIM:616331 |
| Alg3-Cdg |
|
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tube defect, ... |
ORPHA:79321 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Downturned corners of mouth, Long philtrum, Microcephaly, Brachycephaly, U-Sha... |
OMIM:301041 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Oligohydramnios, Polydactyly, Clinodactyly of the... |
ORPHA:397590 |
| Renpenning Syndrome |
|
Thin eyebrow, Alopecia, Abnormal hairshaft morphology |
ORPHA:3242 |
| Angelman Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,... |
OMIM:105830 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Calvarial skull defect, Ag... |
ORPHA:228390 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Downturned corners of mouth, Polymicrogyria, Secondary microcephaly, M... |
OMIM:614222 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Renpenning Syndrome 1 |
|
Cerebral atrophy, Tetralogy of Fallot, Macrodontia, Micrognathia, Situs inversus totalis, Narrow ... |
OMIM:309500 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... |
OMIM:616546 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Hypoplasia of the corpus callosum... |
ORPHA:2745 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Impacted tooth, Microcephaly, Brachycephaly, Non-mi... |
ORPHA:236 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bifid uvula, Plagiocephaly, Downturned corners of mouth, Anteriorly placed anus, Micrognathia, Te... |
ORPHA:247262 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Plagiocephaly, Dilation of Virchow-Robin spaces, Hypoplasia of the pons, L... |
OMIM:619512 |
| Acrocardiofacial Syndrome |
|
Cerebral cortical atrophy, Cleft upper lip, Tetralogy of Fallot, Mitral stenosis, Truncus arterio... |
ORPHA:2008 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Mandibular prog... |
OMIM:123500 |
| Chromosome 5P13 Duplication Syndrome |
|
Downturned corners of mouth, High palate, Agenesis of corpus callosum, Turricephaly, Brachycephal... |
OMIM:613174 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia o... |
ORPHA:1352 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Long philtrum, Micrognathia, Narrow mouth, Microcephaly, Smooth philtrum, Brachyceph... |
ORPHA:562528 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Global brain atrophy, Carious teeth, Yellow-brown discoloration of the teeth, Delayed... |
OMIM:619229 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... |
OMIM:258860 |
| Orofaciodigital Syndrome I |
|
Carious teeth, Ankyloglossia, Agenesis of corpus callosum, High palate, Cerebral atrophy, Abnorma... |
OMIM:311200 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly |
OMIM:611560 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
| Thakker-Donnai Syndrome |
|
Downturned corners of mouth, Tetralogy of Fallot, Narrow mouth, Agenesis of corpus callosum, Vent... |
ORPHA:1780 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly, Dental crowding, Protruding tongue, Submucous cleft hard palate, Microcephaly, Thi... |
OMIM:618106 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Retrognathia, Tetralogy of Fallot, High palate, Hypoplasia of the c... |
OMIM:619869 |
| Cerebrocostomandibular Syndrome |
|
Carious teeth, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate, Atr... |
OMIM:117650 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:75564 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Skin ulcer, Hypersplenism, Hepatosplenomegaly, Pallor, Splenomegaly, Genu valgu... |
ORPHA:231214 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Anteriorly placed anus, ... |
ORPHA:1708 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet... |
ORPHA:2847 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Follicula... |
OMIM:158310 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... |
ORPHA:2311 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Hypoplasia of the pons, Cerebral atrophy, Long philtrum, Retrognathia, Hypop... |
OMIM:612513 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411515 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Microretrognathia, Aortic root aneurysm, Long philtrum, 11 pairs of ribs, Micrognathi... |
OMIM:245600 |
| Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
| Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Neonatal death, Atrial... |
OMIM:311900 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... |
ORPHA:2211 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Fibular aplasia, Micrognathia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... |
ORPHA:3320 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Small hand, Hypoplasia of the maxilla, Dental... |
OMIM:257850 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Thin upper li... |
OMIM:618430 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
| 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 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Dry skin, Alopecia |
OMIM:618282 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Micrognathia, Periventricular leukomalacia, Tented upper lip vermilion, Exaggerate... |
OMIM:619833 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Coronal craniosynostosis, Hypoplasia of the maxilla, Short distal p... |
ORPHA:2095 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Esophagitis, Amelia, Perineal fistula, Agenesis of corpus callosum, Atrial septal defect, Rectal ... |
ORPHA:2538 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth, Hypoplasia of the corpus ca... |
OMIM:616708 |
| Aspergillosis |
|
Stroke, Intracranial hemorrhage |
ORPHA:1163 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial... |
ORPHA:536545 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Skeletal muscle atrophy, Subcutaneous hemorrhage, Myopathy, Telangiec... |
ORPHA:109 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Patent ductus arteriosu... |
ORPHA:861 |
| Glycogen Storage Disease Ii |
|
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Shorten... |
OMIM:232300 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Micrognathia, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial s... |
OMIM:615948 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, T... |
OMIM:234100 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Open mouth, Tented upper lip vermilion, Thin upper lip vermilion, Microcephaly, Sh... |
OMIM:616579 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails |
OMIM:261990 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Hypopla... |
OMIM:609053 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Pallor |
ORPHA:99931 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... |
OMIM:601559 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice, Growth delay |
ORPHA:822 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Widely spaced teeth, Microdontia, Microcephaly, Atrial septal defect, Hypoplasia of teeth, Cleft ... |
ORPHA:2728 |
| Atelosteogenesis Type I |
|
Rhizomelia, Pulmonary hypoplasia, Talipes equinovarus, Limb undergrowth, Abnormal ossification in... |
ORPHA:1190 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Malar flattening, Brachycep... |
OMIM:207410 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect, Meningocele |
OMIM:620511 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Polyhydr... |
ORPHA:86822 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Vertebrobasilar dolichoectasia, Microcephaly, ... |
ORPHA:521445 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Mesomelia, Cerebellar vermis hypoplasia, Microglossia, Hamartoma of tongue, Intestinal malrotatio... |
OMIM:263520 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Recurrent respiratory infections, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:255320 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Craniodigital-Intellectual Disability Syndrome |
|
Brachycephaly, Micrognathia |
ORPHA:1514 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Celiac artery dissection, Dental crowding, Tortuous cerebral arteries,... |
OMIM:619329 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Dental malocclusion, Retrognathia, Diastema, Micrognathia, Short lingual f... |
ORPHA:96121 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Cerebral calcification, Micrognathia, Ventricular septal defect, Microcephaly, S... |
ORPHA:1393 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Unilateral cleft lip, Hypoplasia of the brainstem, Median cleft pal... |
OMIM:610828 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic nerve hypoplasia, Plagiocephaly, Hypoplasia of the pons, Long philtrum, Hypoplasia of the b... |
OMIM:300749 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
| Frontonasal Dysplasia 3 |
|
Tessier cleft, Brachycephaly, Cleft palate |
OMIM:613456 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| Incontinentia Pigmenti |
|
Erythema, Alopecia, Ridged fingernail, Irregular hyperpigmentation, Dystrophic toenail, Skin ulce... |
ORPHA:464 |
| Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Encephalocele, Abnor... |
ORPHA:991 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Lipoatrophy, Shagreen patch |
ORPHA:2617 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
| Antley-Bixler Syndrome |
|
Hypoplasia of the zygomatic bone, Long philtrum, Narrow mouth, Turricephaly, Brachycephaly, Crani... |
ORPHA:83 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Brachyturricephaly, Delayed eruption of teeth, Micrognathia, Narrow mo... |
OMIM:613849 |
| White-Sutton Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Downturned corners of mouth, Abnormal heart mo... |
ORPHA:468678 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... |
OMIM:617866 |
| Robinow Syndrome |
|
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Vent... |
ORPHA:97360 |
| Houge-Janssens Syndrome 2 |
|
Plagiocephaly, Tented upper lip vermilion, Open mouth, Hypoplasia of the corpus callosum, Agenesi... |
OMIM:616362 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Short ribs, Brachycephaly, Frontal bossing, Cleft palate |
OMIM:200610 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Plagiocephaly, Atrioventricular canal defect, Narrow mouth, Exaggerated cupid's bow,... |
OMIM:619480 |
| Omenn Syndrome |
|
Dry skin, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Autosomal Recessive Robinow Syndrome |
|
Open bite, Ankyloglossia, Micrognathia, Ventricular septal defect, Atrial septal defect, Downturn... |
ORPHA:1507 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Holoprose... |
OMIM:146510 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Abnormal lung lobation, Oligohydramn... |
ORPHA:958 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage, Growth d... |
ORPHA:79284 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Pa... |
OMIM:153400 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Low anterior hairline |
OMIM:614219 |
| Phace Syndrome |
|
Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo... |
ORPHA:42775 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| American Trypanosomiasis |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:3386 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Short thumb, Tetralogy of Fallot, Esophagitis, Ventricular septal ... |
OMIM:612562 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Atrial septal defect, Everted lower lip vermilion, High palate, Patent ductus arter... |
OMIM:613610 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Retrognathia, Long philtrum, Abnormal heart morphology, Tetralogy of Fallot,... |
ORPHA:96092 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, High, narrow palate, Prominent palatine ridges, Scaphocephaly, Narrow mout... |
OMIM:272950 |
| Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Mandibular prognathia, Delayed eruption of teeth, Brachyt... |
ORPHA:87 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Skin ulcer, Hypopigmented skin patches |
ORPHA:47 |
| Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Cerebellar vermis hypoplasia, Short femur, Lobulated tongue, Cleft upper ... |
OMIM:277170 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Dental crowding, Downturned corners of mouth, Cerebral atrophy, Widely spaced teet... |
OMIM:618268 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly, Thick vermilion border |
OMIM:619927 |
| Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Pulmonary hypoplasia, Edema, Short finger |
OMIM:312150 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Plagiocephaly |
OMIM:308350 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Fibular aplasia, Micrognathia, Patellar aplasia, Ventricular septal defect, Carpal... |
OMIM:274000 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Acant... |
ORPHA:158687 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio... |
OMIM:613834 |
| Bresek Syndrome |
|
Plagiocephaly, Aganglionic megacolon, Microcephaly, Cleft palate, Optic nerve hypoplasia |
ORPHA:85284 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Sparse hair, Hyperkeratosis, Abnormal toenail morphology |
ORPHA:1005 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Widely-spaced maxillary central incisors, Anteriorly placed anus, Short lingual frenulum, Brachyc... |
OMIM:608980 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Hypoplastic vertebral bodies, Microcephaly, Brachy... |
ORPHA:2163 |
| Down Syndrome |
|
Narrow palate, Abnormality of the dentition, Macroglossia, Secundum atrial septal defect, Downtur... |
ORPHA:870 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Polyhydramnios, Pulmonary hypoplasia |
OMIM:616867 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Chronic bronchitis, Hypoplasia of the femoral head |
OMIM:616629 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Hypoplasia of the maxilla, Agenesis of corpus callosum, Brach... |
OMIM:218000 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Aica-Ribosiduria |
|
Thin upper lip vermilion, Brachycephaly, Wide mouth |
ORPHA:250977 |
| Dyskeratosis Congenita |
|
Alopecia, Palmoplantar keratoderma, Skin ulcer, White hair, Premature graying of hair, Abnormal f... |
ORPHA:1775 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Open mouth, Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:466791 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Widely spaced teeth, Narrow mouth, Tented upper lip vermilion, Malar flattening, Microcephaly, Br... |
OMIM:300260 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Advanced eruption of te... |
ORPHA:1519 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... |
OMIM:613795 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... |
ORPHA:464329 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, Ventricular septal defect, High palate, High, narrow palate, Downturned corners of ... |
OMIM:122470 |
| Ritscher-Schinzel Syndrome 4 |
|
Narrow palate, Plagiocephaly, Thick vermilion border, Agenesis of corpus callosum, Cerebellar hyp... |
OMIM:619435 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Conical tooth, Parietal foramina, Widely spaced teeth, Tessier numb... |
OMIM:613451 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
| Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Aplasia/Hypoplasia of the ... |
OMIM:154400 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:3453 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... |
ORPHA:3322 |
| Renal Tubular Dysgenesis |
|
Hypotension, Oligohydramnios, Pulmonary hypoplasia |
OMIM:267430 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
| Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Abdominal aortic aneurysm, M... |
OMIM:610168 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Simplified gyral pattern, Smooth philtrum, Brachycephaly, Primary microcephaly, Optic nerve hypop... |
OMIM:618828 |
| Alg9-Cdg |
|
Bifid uvula, Rhizomelia, Microretrognathia, Cerebral atrophy, Long philtrum, Abnormal heart morph... |
ORPHA:79328 |
| Microform Holoprosencephaly |
|
Tetralogy of Fallot, Tented upper lip vermilion, Agenesis of corpus callosum, Solitary median max... |
ORPHA:280200 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... |
OMIM:612651 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Micr... |
OMIM:601186 |
| 19P13.13 Microdeletion Syndrome |
|
Narrow mouth, Malar flattening, Hypoplasia of the frontal lobes, Thin upper lip vermilion, Smooth... |
ORPHA:357001 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Short toe, Duodenal atresia, Short thumb, Short middle phalanx of finger... |
OMIM:164280 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Brachydactyly, Recurrent respiratory ... |
OMIM:618950 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Cleft lip, Dental crowdi... |
OMIM:257920 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Dry skin, Nail dystrophy, Nail dysplasia, Reticul... |
OMIM:613990 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Short st... |
ORPHA:163979 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal defect, Atrial septal defect, High... |
OMIM:300373 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Vertebral artery aneurysm, Bruising susceptibility, Arterial tortuosity,... |
OMIM:619656 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Restrictive cardiomyopathy, Global brain atrophy, Downturned corners of mout... |
ORPHA:369837 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Pallor, Growth delay |
OMIM:600462 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Agenesis of corpus callosum, Brachycephaly, Macrocep... |
OMIM:109120 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Edema, Short finger |
OMIM:253290 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Ischemic stroke, Prolonged QRS compl... |
ORPHA:90068 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly |
ORPHA:90037 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly |
OMIM:612247 |
| Severe Congenital Nemaline Myopathy |
|
Polyhydramnios, Edema of the dorsum of hands, Adducted thumb, Pulmonary hypoplasia |
ORPHA:171430 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Fetal intraventricular hemorrhage, Limb hypertonia |
OMIM:618480 |
| Kagami-Ogata Syndrome |
|
Pulmonic stenosis, Pulmonary arterial hypertension, Limb undergrowth, Long fingers, Polyhydramnio... |
OMIM:608149 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec... |
ORPHA:2473 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Orofacial cl... |
ORPHA:268249 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... |
OMIM:618748 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Lig4 Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, Thin vermilion border, Biparietal narrowing |
ORPHA:99812 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max... |
ORPHA:2751 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Tricuspid valve pro... |
ORPHA:1101 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Narrow palate, Hypoplasia of the maxilla, Dental malocclusion, Brachyturricephaly, Micrognathia, ... |
OMIM:182212 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Abnormal dental enamel morphology, Macrodontia, Hypoplastic vertebral bodies, Hypo... |
ORPHA:2916 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
| Hydranencephaly |
|
Dilatation of the ventricular cavity, Postnatal growth retardation, Abnormal internal carotid art... |
ORPHA:2177 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Pulmonary hypoplasia, Finger syndactyly, Umbili... |
OMIM:308050 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Micrognathia, Narrow mouth, Patellar aplasia, Perineal fistula, Agen... |
OMIM:218600 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Open operculum, Lobulated tongue, Hamartoma of tongue, Trigonocephaly, Hypopla... |
ORPHA:434179 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Arthrogryposis multiplex congenita, Pyloric stenosis |
OMIM:614262 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Tented upper lip vermilion, Microcephaly, Brachycephaly, Abnormal cerebral white matt... |
OMIM:618885 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Redundant skin, Cutis laxa, Sparse hair |
OMIM:613075 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Lack of skin elasticity, Absent eyelashes,... |
ORPHA:90153 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Downturned c... |
ORPHA:1299 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypoplasia of the maxilla, Cleft upper lip, Gingival overgrowth, Micrognathia, Hypoplasia of the ... |
OMIM:213980 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Iniencephaly |
|
Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holoprosencephal... |
ORPHA:63259 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Elevated hep... |
ORPHA:300298 |
| Frontofacionasal Dysplasia |
|
Tessier cleft, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Brachycephaly, N... |
ORPHA:1791 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Ventri... |
ORPHA:3472 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage |
ORPHA:401986 |
| Arachnoid Cyst |
|
Lower limb muscle weakness, Encephalocele, Subarachnoid hemorrhage, Facial palsy, Hydrocephalus, ... |
ORPHA:2356 |
| Cree Impaired Intellectual Development Syndrome |
|
Micrognathia, Brachycephaly, Cleft soft palate, Aplasia/Hypoplasia of the ribs |
OMIM:606851 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic coccygeal vertebrae, Absent thumb, Parietal foramina, Cleft upper lip, Short thumb, R... |
OMIM:105650 |
| Adult Syndrome |
|
Absent nipple, Fair hair, Breast hypoplasia, Dry skin, Alopecia of scalp, Sparse axillary hair, H... |
OMIM:103285 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... |
OMIM:253800 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... |
ORPHA:3440 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Oligohydramnios, Hypertension, Pulmonary hypoplasia |
OMIM:602088 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Brachydactyly, Pulmonary hypoplasia |
OMIM:300978 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... |
ORPHA:79282 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... |
OMIM:616300 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, ... |
OMIM:615471 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Alopecia |
OMIM:620651 |
| Noonan Syndrome 2 |
|
Cardiomyopathy, Long philtrum, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Microg... |
OMIM:605275 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Pedal edema, Pulmonary hypoplasia, Mesoaxial hand polydactyly, Postax... |
OMIM:236700 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf... |
ORPHA:980 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Tessier cleft, Mandibular prognathia, Lip pit, Abnormal palate morphology, Microcephaly, Hypodont... |
ORPHA:1236 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Alopecia, Hyperpigmentation of the skin, Nail dystrophy |
OMIM:175500 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Short Syndrome |
|
Alopecia, Sparse hair, Excessive wrinkled skin |
ORPHA:3163 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Adenylosuccinase Deficiency |
|
Long philtrum, Cerebral atrophy, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Brachyc... |
OMIM:103050 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Acromelic Frontonasal Dysostosis |
|
Dilation of Virchow-Robin spaces, Parietal foramina, Cleft upper lip, Short tibia, Patellar hypop... |
OMIM:603671 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Elevated circulating hepatic transaminase concentration, Pallor |
ORPHA:98870 |
| Fontaine Progeroid Syndrome |
|
Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, Bicuspid aortic... |
OMIM:612289 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... |
ORPHA:96129 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Erythema, Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Nail dystrophy, Gener... |
ORPHA:79396 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Plagiocephaly, ... |
OMIM:101400 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Microcephaly, Orofacial cleft, B... |
OMIM:601701 |
| Pfeiffer Syndrome Type 1 |
|
Bicoronal synostosis, Aplasia/Hypoplasia of the thumb, Brachycephaly, Short hallux, High palate, ... |
ORPHA:93258 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis |
ORPHA:348 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Pallor, Splenomegaly |
ORPHA:90033 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Reticular hyperpigmentation, Sp... |
OMIM:127550 |
| Gorlin Syndrome |
|
Mandibular prognathia, Carious teeth, Cerebral calcification, Calcification of falx cerebri, Card... |
ORPHA:377 |
| Elliptocytosis 1 |
|
Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Gastric varix, Esophageal varix, Hepato... |
ORPHA:64743 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Abnormal internal carotid... |
ORPHA:391665 |
| Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth, Short toe, Micromeli... |
ORPHA:950 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Widely spaced teeth, Secondary microcephaly, Micrognathia, Hypoplasia of the corpu... |
OMIM:617193 |
| Meige Disease |
|
Cellulitis, Atypical scarring of skin, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Chromosome 13Q14 Deletion Syndrome |
|
Micrognathia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus cal... |
OMIM:613884 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Williams-Beuren Syndrome |
|
Open mouth, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septa... |
OMIM:194050 |
| Distal Deletion 12Q |
|
High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Duodenal atresia, Lo... |
ORPHA:96149 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Downturned corners of mouth, Long philtrum, Abnormal mandible morphology, Hemiatro... |
ORPHA:2215 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Mandibular prog... |
OMIM:614188 |
| 20Q11.2 Microduplication Syndrome |
|
Tented philtrum, Retrognathia, Trigonocephaly, Gingival overgrowth, Tented upper lip vermilion, M... |
ORPHA:363659 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypoplastic olfactory lobes, Cerebral cortical atrophy, High, narrow palate, Brachyturricephaly, ... |
OMIM:214100 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cerebral atrophy, Gingival overgrowth, Protruding tongue, Hypoplasia of the corpus callosum, Brac... |
OMIM:618797 |
| Ayme-Gripp Syndrome |
|
Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Cerebral atrophy, Narrow mou... |
OMIM:601088 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion |
ORPHA:169154 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Long philtrum, Secondary microcephaly, Narrow mouth, Hypoplasia of the... |
OMIM:615663 |
| Kawasaki Disease |
|
Vasculitis, Strawberry tongue, Double outlet right ventricle with subpulmonary ventricular septal... |
ORPHA:2331 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Mandibular prognathia, Carious teeth, Hypoplasia of the odontoid process, ... |
OMIM:253010 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Micrognathia, Narrow ... |
ORPHA:2108 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Squalene Synthase Deficiency |
|
Dry skin, Abnormality of hair pigmentation |
OMIM:618156 |
| Sepsis In Premature Infants |
|
Decreased liver function, Pallor, Splenomegaly, Petechiae, Hepatomegaly, Jaundice, Purpura |
ORPHA:90051 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Plagiocephaly, Tented philtrum, Patellar hypoplasia, Abnormal periventricular white matter morpho... |
ORPHA:495818 |
| Au-Kline Syndrome |
|
Bifid uvula, Plagiocephaly, Aortic root aneurysm, Downturned corners of mouth, Dental malocclusio... |
OMIM:616580 |
| Hemochromatosis, Type 1 |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:235200 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... |
OMIM:602450 |
| Trisomy 20P |
|
Abnormality of the dentition, Plagiocephaly, Downturned corners of mouth, Micrognathia, Abnormal ... |
ORPHA:261318 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Dental crowding, Cerebral atrophy, Partial agenesis of the corpus callosum, Brachy... |
OMIM:617296 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Serkal Syndrome |
|
Oligohydramnios, Pulmonic stenosis, Pulmonary hypoplasia |
ORPHA:139466 |
| Ring Chromosome 7 Syndrome |
|
Short 5th finger, Cerebral cortical atrophy, Bifid uvula, Plagiocephaly, Small hand, Narrow mouth... |
ORPHA:1449 |
| Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Cleft upper lip, Hypoplasia of the corpu... |
ORPHA:1394 |
| Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Primary microcephaly |
OMIM:617730 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Multiple cafe-au-lait spots |
ORPHA:85279 |
| Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, High palate, Brachycephaly |
OMIM:239710 |
| Coffin-Siris Syndrome 1 |
|
Hypoplasia of the corpus callosum, Ventricular septal defect, Aplasia/Hypoplasia of the patella, ... |
OMIM:135900 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Splenomegaly, Esophageal varix |
OMIM:620367 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Hypoplasia of the olfactory bulb, Patellar hypoplasia, Median cl... |
ORPHA:1827 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... |
OMIM:608836 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Gingival overgrowth, Prominent occiput, Micrognathia, Ventricular septal defect, Ca... |
ORPHA:96191 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor |
ORPHA:331206 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Pallor |
OMIM:246400 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly, Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion... |
OMIM:619680 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Plagiocephaly, Aortic root aneurysm, Downturned corners of mouth, Long philtrum, Hypo... |
ORPHA:444077 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot |
ORPHA:166035 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Hypoplasi... |
ORPHA:96264 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... |
ORPHA:99827 |
| Loeys-Dietz Syndrome |
|
Arterial dissection, Bifid uvula, Aortic dissection, Arterial tortuosity, Micrognathia, Malar fla... |
ORPHA:60030 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly |
OMIM:614416 |
| Fucosidosis |
|
Cardiomegaly, Abnormality of the dentition, Brachycephaly |
ORPHA:349 |
| Pfeiffer Syndrome |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Shortening of all middle phalanges of the fi... |
OMIM:101600 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Oligohydramn... |
OMIM:200980 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A... |
ORPHA:544488 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Preaxial hand polydactyly, Oligohydramnios, Respiratory infections in early life, Clinodactyly of... |
ORPHA:96179 |
| Periventricular Nodular Heterotopia |
|
Hernia, Gastroesophageal reflux, Pyloric stenosis |
ORPHA:98892 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Toe syndactyly, Joint contracture of the hand, Finger syndact... |
OMIM:256520 |
| Adrenoleukodystrophy |
|
Alopecia, Hyperpigmentation of the skin |
OMIM:300100 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... |
ORPHA:394 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Splenomegaly, Abnormal metaphysis morphology, Bowing of the long bones, Hydrocephalus, He... |
ORPHA:667 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Should... |
OMIM:607323 |
| Waardenburg Syndrome, Type 4C |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613266 |
| Congenital Myopathy 17 |
|
Hand clenching, Pulmonary hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Respira... |
OMIM:618975 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Pallor, Hydrocephalus |
OMIM:277400 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... |
ORPHA:3214 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... |
OMIM:614437 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Plagiocephaly, Turricephaly, Diffuse cerebral atrophy, Microcephaly, Short p... |
OMIM:613776 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:500 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Mandibular prognathia, Cleft upper lip, Malar flattening, Oligodo... |
OMIM:201180 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, ... |
ORPHA:2166 |
| Developmental And Epileptic Encephalopathy 84 |
|
Microcephaly, Plagiocephaly, Smooth philtrum, Thick lower lip vermilion |
OMIM:618792 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... |
ORPHA:90324 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:246450 |
| Osteogenesis Imperfecta |
|
Arterial dissection, Aortic regurgitation, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... |
ORPHA:666 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Dry skin, Abnormality of t... |
ORPHA:428 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Intraventricular hemorrhage, Prolonged prothrombin time, Neonata... |
OMIM:619055 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Short stature, Intrauterine growth retardation, Subdural hemorrhage, Skeletal muscle hypertrophy |
OMIM:619714 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... |
ORPHA:340 |
| Fetal Akinesia Deformation Sequence |
|
Polyhydramnios, Pulmonary hypoplasia, Absent palmar crease, Camptodactyly of finger |
ORPHA:994 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Portal hypertension, Neonatal death, Hematemesis, Hypertension, Dehydration, Pul... |
OMIM:263200 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, Carious teeth, Aortic root aneurysm, Plagiocephaly, Long philtrum, Mic... |
ORPHA:536467 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Gastroesophageal reflux, Oculogyric crisis, Limb dystonia, Limb tremor, Torticolli... |
OMIM:608643 |
| Ane Syndrome |
|
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin |
ORPHA:157954 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t... |
ORPHA:59315 |
| Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Cleft lip, Retrognathia, Micrognathia, Abnormal mitral valve morphology, ... |
ORPHA:1724 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Plagiocephaly, Aplastic clavicle, Dela... |
OMIM:620099 |
| Mandibuloacral Dysplasia |
|
Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail |
ORPHA:2457 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy |
OMIM:240300 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes |
ORPHA:3130 |
| Blomstrand Lethal Chondrodysplasia |
|
Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, Flared metaphy... |
ORPHA:50945 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis |
OMIM:243700 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96263 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Pallor, Lipid accumulation in hepatocyte... |
ORPHA:20 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Congenital pyloric atresia, Esophageal atresia, Enamel hypoplasia, Arthrogryposis... |
OMIM:226730 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Palmoplantar cutis laxa |
OMIM:229200 |
| Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Spotty hyperpigmentation, Dry skin, Nail dystrophy, Sparse eyelashes, S... |
OMIM:614008 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage |
ORPHA:25 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Wide mouth |
OMIM:616083 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Scalin... |
ORPHA:158668 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, 11 pairs o... |
OMIM:620025 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Sparse hair, Mottled pigmentation, Brittle hair |
OMIM:608612 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Thickened calvaria,... |
OMIM:309583 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... |
ORPHA:740 |
| Peters Plus Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Anal atresia, Short foot, Patent ductus ... |
ORPHA:709 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Umbilical hernia |
OMIM:149400 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Postaxial polydactyly, Hydrocephalus |
OMIM:219730 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Bifid uvula, Posterior plagiocephaly, Mandibular prognathia, Long p... |
OMIM:620330 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Aymé-Gripp Syndrome |
|
Cerebral cortical atrophy, Plagiocephaly, Long philtrum, Narrow mouth, Hypoplasia of the corpus c... |
ORPHA:1272 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... |
ORPHA:402075 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Aortic root aneurysm, Hypoplasia of the corpus callosum, Ventricular septal defect, Agenesis of c... |
OMIM:607872 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Cleft lip, Cleft palate, Ventricular septal defect |
OMIM:611812 |
| Duplication Of The Pituitary Gland |
|
Volvulus, Brachyturricephaly, Retrognathia, Hypoplasia of olfactory tract, Agenesis of corpus cal... |
ORPHA:314621 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Tetralogy of Fallot, Pe... |
ORPHA:306542 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr... |
ORPHA:3260 |
| Diaphanospondylodysostosis |
|
Oligohydramnios, Increased nuchal translucency, Talipes equinovarus, Narrow pelvis bone, Hammerto... |
OMIM:608022 |
| 1Q41Q42 Microdeletion Syndrome |
|
Talipes equinovarus, Holoprosencephaly, Pulmonary hypoplasia |
ORPHA:250999 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia, Oligohydramnios, Cardiomyopathy, Congestive heart failure |
OMIM:616866 |
| Oculocerebrocutaneous Syndrome |
|
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches |
ORPHA:1647 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
| Arboleda-Tham Syndrome |
|
Narrow mouth, Ventricular septal defect, Short hallux, Atrial septal defect, Patent ductus arteri... |
OMIM:616268 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Pallor |
OMIM:301310 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Dry skin, Nail dysplasia, Hypoplastic ni... |
ORPHA:69085 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Purpura, Splenomegaly, Pallor |
ORPHA:33226 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Subluxation of the small joints of the hand, Dysplasia of the femoral head... |
ORPHA:536471 |
| Fetal Akinesia Deformation Sequence 1 |
|
Slender long bone, Camptodactyly of finger, Small placenta, Ulnar deviation of the hand or of fin... |
OMIM:208150 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly |
OMIM:300908 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... |
OMIM:300048 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pelvic girdle bone morphology, Hemiatrophy, Stippled calcification in carpal... |
OMIM:302960 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Alopecia, Nail dystrophy |
OMIM:226600 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Breast hypoplasia, Redundant skin, Sparse eyelashes, Nail dysplasia, Hy... |
OMIM:230740 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Malar flattening, Pansynostosis |
OMIM:180750 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Cone-shaped epiphysis, Occipital encephalocele, Recurrent respira... |
ORPHA:397715 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... |
ORPHA:363958 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Endoca... |
ORPHA:99776 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor, Hydrocephalus |
ORPHA:137675 |
| Adams-Oliver Syndrome |
|
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail |
ORPHA:974 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Hydrocephalus, Peau d'orange, Hip dysplasia |
OMIM:614576 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Posterior plagiocephaly, Ankyloglossia, Micrognathia, Agenesis of corpus callosum, Patent ductus ... |
OMIM:619841 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Nail dystrophy, Abnormality of skin pigmentation, Sparse eyelashes |
OMIM:620040 |
| Anauxetic Dysplasia 3 |
|
Plagiocephaly, Retrognathia, Oligodontia, Short metacarpal, Short middle phalanx of finger |
OMIM:618853 |
| Laurence-Moon Syndrome |
|
Brachycephaly |
ORPHA:2377 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Pneumothorax, Short femur, Pulmonary h... |
OMIM:620306 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Plagiocephaly, Short thumb, Micrognathia, Periventricular white matter hyperintensities, Turricep... |
OMIM:620224 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pallor |
OMIM:617675 |
| Carpenter Syndrome 2 |
|
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Long philtr... |
OMIM:614976 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Plagiocephaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Cereb... |
ORPHA:500055 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Hypopigmented skin patches, Sparse eyelashes, Early balding |
ORPHA:2067 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| 2P15P16.1 Microdeletion Syndrome |
|
Retrognathia, Long philtrum, Narrow mouth, Cerebellar hypoplasia, Microcephaly, Smooth philtrum, ... |
ORPHA:261349 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Tremor, Abnormal duodenum morphology, Dystonia, Neoplasm of the gall... |
ORPHA:512 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Small hand, Plagiocephaly, Secundum atrial septal defect, Hypoplasi... |
OMIM:620455 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
| Congenital Myopathy 13 |
|
Downturned corners of mouth, Micrognathia, Microcephaly, Brachycephaly, High palate, Cleft palate |
OMIM:255995 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral cortical atrophy, Plagiocephaly, Widely spaced teeth, Secondary microcephaly, Micrognath... |
ORPHA:496641 |
| Congenital Myopathy 22B, Severe Fetal |
|
Tapered toe, Shoulder flexion contracture, Slender long bone, Ascites, Elbow flexion contracture,... |
OMIM:620369 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Hydrocephalus, Mitral regurgitation |
OMIM:603387 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Umbi... |
OMIM:300989 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of th... |
OMIM:227646 |
| Holoprosencephaly 3 |
|
Bifid uvula, Cleft lip, Proboscis, Malar flattening, Solitary median maxillary central incisor, M... |
OMIM:142945 |
| Congenital Tracheomalacia |
|
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... |
ORPHA:95430 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Rocker bottom foot, Pulmonary hypoplasia, Umbilical hernia, Patellar a... |
OMIM:265000 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Short stature, Intraventricular hemorrhage |
OMIM:616430 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia, Scaling skin |
OMIM:606367 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm,... |
OMIM:609192 |
| Superficial Siderosis |
|
Arteriovenous malformation, Abnormal bleeding, Lower limb muscle weakness, Abnormal vertebral art... |
ORPHA:247245 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Xeroderma Pigmentosum |
|
Erythema, Alopecia, Hypopigmented skin patches, Dry skin, Melanocytic nevus, Freckling, Hypermela... |
ORPHA:910 |
| Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia |
OMIM:615577 |
| Aicardi Syndrome |
|
Small hand, Plagiocephaly, Cleft upper lip, Polymicrogyria, Intestinal polyposis, Prominence of t... |
ORPHA:50 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia, Mitral v... |
OMIM:259600 |
| Monosomy 9P |
|
Abnormality of the dentition, Long philtrum, Trigonocephaly, Calvarial skull defect, Narrow mouth... |
ORPHA:261112 |
| Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Campto... |
OMIM:248700 |
| Linear Nevus Sebaceus Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Cerebral calcification... |
ORPHA:2612 |
| Renal Agenesis |
|
Talipes equinovarus, Oligohydramnios, Hypertension, Pulmonary hypoplasia |
ORPHA:411709 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Long philtrum, Frontal bossing, Open bite, Micrognathia, Brachycephaly, Deep philtrum, Everted lo... |
ORPHA:1974 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Micromelia, Brachycephaly, Dolichocephaly, Mesomelia |
ORPHA:2633 |
| Mogs-Cdg |
|
Long eyelashes, Alopecia, Fair hair, Hirsutism |
ORPHA:79330 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial ... |
ORPHA:96334 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98795 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... |
OMIM:268400 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Long philtrum, Short femoral neck, Micrognathia, Narrow mouth, Patent foramen ovale, Short philtr... |
OMIM:619127 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:90154 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashe... |
OMIM:106260 |
| Dihydropyrimidinase Deficiency |
|
Microcephaly, Anal atresia, Plagiocephaly, Abnormal cerebral white matter morphology |
OMIM:222748 |
| 6Q Terminal Deletion Syndrome |
|
High, narrow palate, Abnormal cerebral cortex morphology, Plagiocephaly, Polymicrogyria, Thick ve... |
ORPHA:75857 |
| Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Arteriovenous malformation... |
ORPHA:2929 |
| Holoprosencephaly 2 |
|
Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilat... |
OMIM:157170 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Talipes equinovarus, Abnormal iliac wing morphology, Hype... |
ORPHA:3027 |
| Holoprosencephaly 1 |
|
Tessier cleft, Proboscis, Median cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia... |
OMIM:236100 |
| Acrocephalopolydactylous Dysplasia |
|
Micromelia, Ascites, Postaxial hand polydactyly, Extrapulmonary lobar sequestration, Pulmonary hy... |
OMIM:200995 |
| Scleromyxedema |
|
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... |
ORPHA:167635 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Plagiocephaly, Micromelia, Narrow mouth, Short ribs, Cleft palate |
ORPHA:2021 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... |
ORPHA:2232 |
| Immunodeficiency 7 |
|
Patchy alopecia, Vitiligo |
OMIM:615387 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:614225 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Gastroesophageal reflux, Exaggerated startle response |
OMIM:620114 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Hypoplasia of the radius, Hydrocephalus, Polyhydramnios, Aqueductal stenosis, Hip d... |
ORPHA:3412 |
| Marfan Syndrome |
|
Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary art... |
ORPHA:558 |
| Leprosy |
|
Alopecia, Sparse body hair, Penetrating foot ulcers, Acral ulceration, Loss of eyelashes, Absent ... |
ORPHA:548 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Exaggerated startle response |
OMIM:609541 |
| Roberts Syndrome |
|
Cleft upper lip, Micrognathia, Patellar aplasia, Malar flattening, Microcephaly, Brachycephaly, A... |
ORPHA:3103 |
| Choanal Atresia |
|
Recurrent respiratory infections, Polydactyly |
ORPHA:137914 |
| Juvenile Dermatomyositis |
|
Erythema, Alopecia, Skin ulcer, Dry skin |
ORPHA:93672 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cerebral atrophy, Long philtrum, Narrow mouth, Malar flattening, Hypoplasia of the corpus callosu... |
OMIM:601353 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small hand, Cerebral atrophy, Long philtrum, Thick lower lip vermilion, Trigonocephaly, Micrognat... |
OMIM:309590 |
| Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ... |
ORPHA:284984 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypoplastic vertebral ... |
OMIM:101800 |
| Genitopatellar Syndrome |
|
Hypoplastic ilia, Patellar aplasia, Hip contracture, Talipes equinovarus, Radioulnar synostosis, ... |
ORPHA:85201 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Plagiocephaly, Open mouth, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypopl... |
ORPHA:457284 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebral cortical atrophy, Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Gingiva... |
OMIM:301072 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Dental crowding, Retrognathia, Open bite, Malar flat... |
OMIM:620083 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Pallor, Splenomegaly |
ORPHA:98849 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia |
OMIM:304790 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Plagiocephaly, Open bite, Brachycephaly, Craniosynostosis, Narrow pala... |
ORPHA:794 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Abnormality of the dentition, Plagiocephaly, Retrognathia, Thick lower lip ver... |
ORPHA:2785 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... |
OMIM:247200 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Hip contracture, Dysphagia, Exaggerated startle response, Flexion cont... |
OMIM:617301 |
| Johanson-Blizzard Syndrome |
|
Abnormal hair pattern, Alopecia |
ORPHA:2315 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Striae distensae, Alopecia, Hirsutism |
ORPHA:189427 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly, Tremor |
OMIM:613179 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Micromelia, Hypoplasia of the zygomatic bone, Long philtrum, Brachycephaly, Thin vermilion border |
OMIM:614800 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Downturned corners of mouth, Short thumb, Widely spaced teeth, Hypoplasia of the corpus callosum,... |
OMIM:616728 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Low posterior hairline, Alopecia, Hyperpigmented nevi |
ORPHA:2959 |
| Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... |
ORPHA:2909 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Anal stenosis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of t... |
OMIM:211380 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Mixed Connective Tissue Disease |
|
Alopecia, Purpura |
ORPHA:809 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe... |
OMIM:616078 |
| Degcags Syndrome |
|
Micrognathia, Protruding tongue, Ventricular septal defect, Agenesis of corpus callosum, Atrial s... |
OMIM:619488 |
| Craniofrontonasal Syndrome |
|
Abnormality of the dentition, Coronal craniosynostosis, Cleft upper lip, Hypoplasia of the corpus... |
OMIM:304110 |
| Femoral-Facial Syndrome |
|
Short fifth metatarsal, Absent vertebra, Long philtrum, 11 pairs of ribs, Micrognathia, Short hum... |
OMIM:134780 |
| Sympathetic Ophthalmia |
|
Erythema, Alopecia, Vitiligo, Poliosis |
ORPHA:79098 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger |
OMIM:619562 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Brachycephaly, Polymicrogyria |
OMIM:612379 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Micrognathia, Brachycephaly, Thin vermilion border, Short philtrum, Wide mouth |
ORPHA:2062 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... |
ORPHA:2754 |
| Hellp Syndrome |
|
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage |
ORPHA:244242 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Brachycephaly, Narrow mouth, Frontal bossing |
OMIM:219150 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Atypical Werner Syndrome |
|
Abnormal hair whorl, Alopecia, Skin ulcer, Premature graying of hair, Abnormal hair morphology, S... |
ORPHA:79474 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Plagiocephaly, Dental crowding, Micrognathia, Thick vermilion border, Dolichocephaly, High palate... |
OMIM:619005 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, High palate, Tremor, Exaggerated startle response |
OMIM:618056 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:411511 |
| Meckel Syndrome, Type 1 |
|
Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial d... |
OMIM:249000 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Aspiration pneumonia, Recurrent pneumonia, Polydactyly |
ORPHA:314655 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Hypoplasia of the brainstem, Triangular-shaped open ... |
OMIM:213300 |
| Nelson Syndrome |
|
Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Lower limb muscle weakness |
ORPHA:199244 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Exaggerated startle response |
OMIM:608800 |
| Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... |
ORPHA:2886 |
| Treacher Collins Syndrome 1 |
|
Abnormal heart morphology, Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Wide ... |
OMIM:154500 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Peripheral pulmonary artery stenosis, Sandal gap, Postaxial polyd... |
OMIM:614099 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| 9P13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Microretrognathia |
ORPHA:324313 |
| Porphyria, Congenital Erythropoietic |
|
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... |
OMIM:263700 |
| Limb Body Wall Complex |
|
Myelomeningocele, Abnormal heart morphology, Diastasis recti, Encephalocele, Short umbilical cord... |
ORPHA:2369 |
| Lig4 Syndrome |
|
Microcephaly, Brachycephaly, Chronic sinusitis |
OMIM:606593 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... |
OMIM:209900 |
| 9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Brachycephaly, Abno... |
ORPHA:2673 |
| Hunter-Macdonald Syndrome |
|
Malar flattening, Mitral valve prolapse, Thin upper lip vermilion, Bicuspid aortic valve, Brachyc... |
OMIM:611962 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Brachycephaly, Micrognathia, Short ribs |
OMIM:156400 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Mitral valve prolapse, Th... |
OMIM:601776 |
| Cornelia De Lange Syndrome |
|
Small hand, Micrognathia, Ventricular septal defect, Atrial septal defect, High palate, Short foo... |
ORPHA:199 |
| 1P36 Deletion Syndrome |
|
Cerebral cortical atrophy, Dilated cardiomyopathy, Long philtrum, Abnormal heart valve morphology... |
ORPHA:1606 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... |
OMIM:109400 |
| Aicardi-Goutières Syndrome |
|
Degeneration of the striatum, Plagiocephaly, Moyamoya phenomenon, Hypertrophic cardiomyopathy, Ce... |
ORPHA:51 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tooth malposition, Small hand, Hypoplasia of the corpus callosum, Atrial septal defect, High pala... |
ORPHA:480880 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Sandal gap, Atelectasis, Umbilical her... |
OMIM:613177 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Rhizomelia, Micromelia, Cardiomyopathy, Gingival overgrowth, Abnormal palate morpholo... |
ORPHA:175 |
| Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Hypertension, Dehydration, Pulmonary hypoplasia |
ORPHA:2260 |
| Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia, Second degree atrioventricular block, Preaxial hand polydactyly, Bowing of ... |
OMIM:617063 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Eclabion, Mandibular prognathia, Downturned corners of mouth, Retrognathia, ... |
OMIM:619950 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Alopecia, Subungual hyperkeratosis, Atrichia, Dry skin, Nail dystrophy, Absent... |
OMIM:308205 |
| Lethal Congenital Contracture Syndrome 9 |
|
Joint contracture of the hand, Short umbilical cord, Talipes equinovarus, Wrist flexion contractu... |
OMIM:616503 |
| Trisomy 18 |
|
Growth delay, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic ... |
ORPHA:3380 |
| Adnp Syndrome |
|
Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broad hallux, Umbilical he... |
ORPHA:404448 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation |
OMIM:613001 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Ventricular septal defect, Agenesis of corpus callosum, Atrial ... |
OMIM:312870 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Oligohydramnios, Pulmonary hypoplasia |
ORPHA:1848 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... |
ORPHA:818 |
| Distal Triplication 15Q |
|
Arachnodactyly, Camptodactyly, Hydrocephalus, Pulmonary hypoplasia |
ORPHA:314588 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia totalis, Alopecia, Nail dystrophy, Abnormality of the periungual region |
ORPHA:293978 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Thick lower lip vermilion, Narrow mouth, Short philtrum, ... |
ORPHA:3063 |
| Dpagt1-Cdg |
|
Stroke-like episode, Intracranial hemorrhage, Camptodactyly, Prolonged QT interval, Flexion contr... |
ORPHA:86309 |
| Rothmund-Thomson Syndrome Type 2 |
|
Erythema, Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dyspla... |
ORPHA:221016 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Facia... |
ORPHA:221008 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... |
ORPHA:79430 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Vent... |
ORPHA:2092 |
| Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia |
ORPHA:2789 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hyperpigmentation of the skin, Hypertrichosis |
ORPHA:168569 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... |
OMIM:300960 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Tremor, Exaggerated startle response |
OMIM:620327 |
| Bartsocas-Papas Syndrome 1 |
|
Alopecia, Small nail, Alopecia totalis, Dry skin, Absent eyelashes, Absent eyebrow, Anonychia, Sp... |
OMIM:263650 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Helsmoortel-Van Der Aa Syndrome |
|
Posterior plagiocephaly, Carious teeth, Small hand, Ankyloglossia, Mitral valve prolapse, Atrial ... |
OMIM:615873 |
| Gaucher Disease, Perinatal Lethal |
|
Ascites, Neonatal death, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia |
OMIM:608013 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... |
OMIM:617527 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
OMIM:216340 |
| Hyperparathyroidism, Transient Neonatal |
|
Short ribs, Stroke, Brachycephaly, Frontal bossing, Patent ductus arteriosus, Short femur |
OMIM:618188 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Carious teeth, Plagiocephaly, Skull asymmetry, Hyperplasia of the maxilla, Chronic gastritis, Pro... |
OMIM:150230 |
| Roberts-Sc Phocomelia Syndrome |
|
Finger aplasia, Absent thumb, Cleft upper lip, Hyperplasia of the maxilla, Micrognathia, Malar fl... |
OMIM:268300 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Supernume... |
OMIM:619718 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Plagiocephaly, Downturned corners of mouth, Long philtrum, Micrognathia, Thin upper lip vermilion... |
OMIM:618548 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Spina bifida occulta, Symphalangism... |
ORPHA:2990 |
| Chronic Granulomatous Disease |
|
Tracheoesophageal fistula, Mediastinal lymphadenopathy, Splenomegaly, Pyloric stenosis |
ORPHA:379 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Aplasia/Hypoplasia involving bones of the skull, Short lingual frenulum, Craniosyn... |
ORPHA:1521 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma, Spina bifida |
ORPHA:2874 |
| Dermatomyositis |
|
Erythema, Alopecia, Skin ulcer, V-sign, Dry skin, Facial erythema, Palmar hyperkeratosis, Abnorma... |
ORPHA:221 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Dry skin, Hypopigmentation of hair |
ORPHA:96169 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Anemic pallor, Absent radius, Short s... |
OMIM:227645 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Brachycephaly, Deep philtrum, Trismus, High palate, Narrow palate, Short foo... |
OMIM:227330 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Bi... |
OMIM:607932 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Leigh Syndrome |
|
Frontal hirsutism, Alopecia, Hypertrichosis |
ORPHA:506 |
| Omenn Syndrome |
|
Alopecia |
OMIM:603554 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Brachycephaly, Tracheoesophageal fistula, Esophageal atresia |
OMIM:619859 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Purpura, Patent ductus arteriosus, Gastrointesti... |
ORPHA:567 |
| Fanconi Anemia |
|
Arteriovenous malformation, Growth delay, Umbilical hernia, Tetralogy of Fallot, Hypertrophic car... |
ORPHA:84 |
| Neu-Laxova Syndrome |
|
Micromelia, Spina bifida, Large hands, Polyhydramnios, Pulmonary hypoplasia |
ORPHA:2671 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Plagiocephaly, Secundum atrial septal defect, Bicuspid aortic valve, Microcephaly, Patent ductus ... |
OMIM:613355 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Oligohydramnios, Polydactyly, Arachn... |
ORPHA:464306 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Short statur... |
OMIM:613406 |
| 14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Short 5th metacarpal, Micrognathia, Malar flattening, Agenesis of co... |
ORPHA:264200 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Prominent scalp veins, Narrow mouth, Agenesis of corpus callosum, Downturned corners... |
ORPHA:3455 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Meningioma |
|
Upper limb muscle weakness, Lower limb muscle weakness, Syncope, Hydrocephalus, Cerebral hemorrha... |
ORPHA:2495 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... |
OMIM:192350 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
| Duane Retraction Syndrome |
|
Plagiocephaly, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the thumb, Everted lower lip ver... |
ORPHA:233 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Dry skin, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypo... |
ORPHA:84064 |
| Legius Syndrome |
|
Polydactyly, Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Clinodactyly of the 5t... |
ORPHA:137605 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Overlapping fingers, Bilateral talipes equinovarus, Bronchiectasis, Pulmo... |
OMIM:619708 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Kbg Syndrome |
|
Long philtrum, Macrodontia, Tented upper lip vermilion, Oligodontia, Microcephaly, Brachycephaly,... |
OMIM:148050 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Brachycephaly |
OMIM:610968 |
| Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Exaggerated startle response |
OMIM:268800 |
| Alpha-Mannosidosis, Infantile Form |
|
Cerebral cortical atrophy, Mandibular prognathia, Cranial hyperostosis, Widely spaced teeth, Abno... |
ORPHA:309282 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Behcet Syndrome |
|
Erythema, Patchy alopecia |
OMIM:109650 |
| Riddle Syndrome |
|
Short stature, Intraventricular hemorrhage, Conjunctival telangiectasia, Telangiectasia |
ORPHA:420741 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... |
OMIM:161200 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617757 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Chylothorax, Short thumb, Prominen... |
OMIM:229850 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Ventricular fibrillation, Holoprosencephaly, Hip dis... |
OMIM:270400 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology |
ORPHA:779 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Secondary microcephaly, Brachycephaly, Cerebellar hemisphere hypoplasia, Thin upper lip vermilion |
ORPHA:456312 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Coarse hair, Dry skin, Brittle hair, Sparse hair |
ORPHA:2750 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... |
ORPHA:2308 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Prominent scalp veins, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Down... |
OMIM:264090 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98794 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... |
OMIM:214500 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Plagiocephaly, Short uvula, Dilatation of the cerebral artery, Ankyloglossia... |
OMIM:619475 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, High palate, Exaggerated startle response |
ORPHA:438216 |
| Localized Scleroderma |
|
Erythema, Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia,... |
ORPHA:90289 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
| Dyskeratosis Congenita, X-Linked |
|
Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Nail dystrophy, Sparse eyel... |
OMIM:305000 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Joint contracture, Exaggerated startle response |
OMIM:617864 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Redundant skin |
ORPHA:536532 |
| Restrictive Dermopathy |
|
Microcolon, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous... |
ORPHA:1662 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short distal phalanx of finger, Dental crowding, Retrognathia, Long philtrum, Malar flattening, M... |
OMIM:617157 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Macroglossia, Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Mottled pigmentation, Alopecia, Sparse scalp hair, Onychogryposis |
OMIM:248370 |
| Neurofibromatosis, Type I |
|
Renal artery stenosis, Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis, Rhabdomyo... |
OMIM:162200 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Hypotension, Abnormal bleeding, Bruising susceptibility, Shock, Prol... |
ORPHA:90062 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Erythema, Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Th... |
ORPHA:2273 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... |
OMIM:600901 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Oligohydramnios, Elevated pulmonary artery pressure, Pulmonary hypoplasia |
OMIM:619351 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Neonatal death, Broad first metatarsal, Aqueductal stenosis, Recurrent lower respira... |
OMIM:619534 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Anemic pallor, Absent radius, Short stature, Complete duplication of t... |
OMIM:227650 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, High palate, Dystonia, Impaired oropharyngeal swallow response,... |
ORPHA:521426 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft, ... |
OMIM:229400 |
| Esophageal Atresia |
|
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Intestinal malrotation, E... |
ORPHA:1199 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Cerebral atrophy, Thick lower lip vermilion, Small basal ga... |
OMIM:610442 |
| Faundes-Banka Syndrome |
|
Plagiocephaly, Micrognathia, Thin upper lip vermilion, Primary microcephaly, Frontal bossing, Cle... |
OMIM:619376 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Facial paralysis, Retinal arteriolar tortuosity, Ischemic strok... |
OMIM:175780 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Polyhydramnios, Short distal phalanx of finger, Abnormal ilium morphology, Pulmonary hypoplasia |
OMIM:614080 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Tooth malposition, Open mouth, Hypoplasia of the corpus callosum, Agenesis... |
ORPHA:2152 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
| Acute Transverse Myelitis |
|
Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Orthostat... |
ORPHA:139417 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Hypoplasia of the odontoid process, Aganglionic megacolon, Brachycephaly, Esophage... |
OMIM:250250 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Cleft upper lip, Tetralogy of Fallot, Micrognathia, Right aortic arch,... |
OMIM:164210 |
| Arthrogryposis, Distal, Type 4 |
|
Cranial asymmetry |
OMIM:609128 |
| Restrictive Dermopathy 1 |
|
Pulmonary hypoplasia, Overtubulated long bones, Hydropic placenta, Oligohydramnios, Short umbilic... |
OMIM:275210 |
| Tay-Sachs Disease |
|
Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia, Dysphagia |
ORPHA:845 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
| Common Variable Immunodeficiency |
|
Vasculitis, Anal atresia, Brachycephaly, Gastrointestinal stroma tumor |
ORPHA:1572 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Oligohydramnios, Portal hypertension, Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
| Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
| Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Dilation of Virchow-Robin spaces, Open mouth, Microcephaly, Brachycephaly, Short foot |
OMIM:615273 |
| Ulbright-Hodes Syndrome |
|
Pulmonary hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, Oligohydramnios, Humeror... |
ORPHA:3404 |
| Kinsship Syndrome |
|
Mesomelia, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Dislocated radial he... |
OMIM:619297 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Calcification of the aorta, Hypoplasia of the... |
ORPHA:2072 |
| Hardikar Syndrome |
|
Umbilical hernia, Intestinal malrotation, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, S... |
OMIM:301068 |
| Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Secondary microcephaly, Thin upper lip vermilion, Brachycephaly, Progressive microcephaly, Steato... |
OMIM:616263 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Stromme Syndrome |
|
Stillbirth, Hydrocephalus, Preaxial polydactyly |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Hydrocephalus |
OMIM:253280 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Growth delay |
ORPHA:329971 |
| Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Pallor, Partial duplication of thumb phalanx, Triphalangeal thumb, Sho... |
ORPHA:124 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Short humerus, Polydactyly, Recurrent respiratory infections, Short ... |
ORPHA:17 |
| Chronic Graft Versus Host Disease |
|
Erythema, Alopecia, Skin ulcer, Nail dystrophy, Skin vesicle, Onycholysis, Abnormality of skin pi... |
ORPHA:99921 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... |
ORPHA:163746 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Vitiligo |
ORPHA:227990 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Pancreatic islet cell adenoma, Pallor, Neoplasm of the pancreas |
ORPHA:892 |
| Relapsing Polychondritis |
|
Erythema, Alopecia, Purpura |
ORPHA:728 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Short 5th toe, 2-4 toe cutaneous syndactyly, Oligohy... |
ORPHA:268261 |
| Alstrom Syndrome |
|
Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart failure, Polydactyly, Hypertension |
OMIM:203800 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Pneumonia, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abno... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Pneumonia, Broad distal phalanx of finger, Broad thumb, Broad hallux, Abno... |
ORPHA:353277 |
| Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:77301 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Hirsutism |
ORPHA:2298 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Pallor |
ORPHA:544482 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Asparagine Synthetase Deficiency |
|
Gastroesophageal reflux, Tremor, Exaggerated startle response |
OMIM:615574 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Hepatocellular carcinoma |
OMIM:300755 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Vitiligo |
ORPHA:227982 |
| Liver Disease, Severe Congenital |
|
Protein-losing enteropathy, Plagiocephaly, Dilatation of the ventricular cavity, Chronic gastriti... |
OMIM:619991 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Nail dysplasia, Patchy alopecia, Sparse a... |
OMIM:181270 |
| Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Recurrent pneumonia, Short 1st metacarpal, Umbilical hernia, Over... |
ORPHA:798 |
| 3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
| Autosomal Dominant Robinow Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Long eyelashes, ... |
ORPHA:3107 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Pallor |
ORPHA:91347 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... |
OMIM:617088 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
| Joubert Syndrome |
|
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele |
ORPHA:475 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism |
ORPHA:2719 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Hypoplastic scapulae, Anteriorly placed anus, Narrow mouth, Turricephaly, Br... |
ORPHA:95699 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Fraser Syndrome 1 |
|
Pulmonary hypoplasia, Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symphysis, Enceph... |
OMIM:219000 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly |
ORPHA:769 |
| Prader-Willi Syndrome Due To Translocation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... |
ORPHA:177907 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Intestinal atresia, Congenital pyloric atresia, Enamel hypoplasia |
ORPHA:79403 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Finger aplasia, Optic nerve hypoplasia, Plagiocephaly, Polymicrogyria |
ORPHA:45358 |
| Aspartylglucosaminuria |
|
Cerebral atrophy, Thick lower lip vermilion, Thickened calvaria, Microcephaly, Brachycephaly, Mac... |
OMIM:208400 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Nail dystrophy, Anonychia, Abnormality of the nail, Paronychia |
ORPHA:79404 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Hydrops fetalis, Postax... |
ORPHA:93271 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneumonia, Ascites, Oligohydramn... |
ORPHA:731 |
| Tetrasomy 9P |
|
Small hand, Hypoplastic scapulae, Pulmonary hypoplasia, Umbilical hernia, Bilateral single transv... |
ORPHA:3310 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... |
ORPHA:167 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98754 |
| Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Aqueductal stenosis, Brach... |
ORPHA:138 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Abnormal lung lobation, Wi... |
ORPHA:2052 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:98793 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Postaxial polydactyly, Clinodactyly |
OMIM:618460 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177904 |
| Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
OMIM:267750 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177901 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Xerostomia, Short thumb, Broad hallux, Preaxial polydactyly, Radi... |
OMIM:149730 |
| Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Umbilical hernia, Elbow contracture, Postnatal growth retardation, Spina bifida, Atri... |
OMIM:304120 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia, Atrophic scars, Flexion contracture, Scarring alopecia of scalp |
ORPHA:158684 |
| Campomelic Dysplasia |
|
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... |
OMIM:114290 |
| Vici Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism |
OMIM:242840 |
| Genitopatellar Syndrome |
|
Hypoplastic ischia, Congenital hip dislocation, Inferior pubic ramus hypoplasia, Patellar aplasia... |
OMIM:606170 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Hip... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Hip... |
ORPHA:352665 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Vitiligo, Melanocytic nevus, H... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Vitiligo, Melanocytic nevus, H... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Vitiligo, Melanocytic nevus, H... |
ORPHA:99226 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hyperconvex fingernails, Vitiligo, Melanocytic nevus, H... |
ORPHA:881 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Cafe-au-lait spot, Abnormality of skin pigmentation |
ORPHA:96176 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair |
ORPHA:2636 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Oligohydramnios, Pulmonary hypoplasia |
OMIM:271520 |
| Semilobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Generalized hypopigmentation |
OMIM:619321 |
| Kikuchi-Fujimoto Disease |
|
Erythema, Alopecia |
ORPHA:50918 |
| Aicardi Syndrome |
|
Spina bifida |
OMIM:304050 |
| Holoprosencephaly 9 |
|
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
| Faciocardiomelic Syndrome |
|
Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Short foot, Hip dislocation, Short... |
OMIM:601803 |
| Steinert Myotonic Dystrophy |
|
Alopecia, Early balding |
ORPHA:273 |
| Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Holoprosencephaly, Abnormal digit morphology, Polydactyly |
ORPHA:95494 |
| Primrose Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Downturned corners of mouth, Thick low... |
OMIM:259050 |
| Shwachman-Diamond Syndrome 1 |
|
Short stature, Myocardial necrosis |
OMIM:260400 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Oligohydramnios, Hip dysplasia, Polydactyly |
ORPHA:2729 |
| Penile Agenesis |
|
Bilateral talipes equinovarus, Bilateral lung agenesis, Oligohydramnios, Pulmonary hypoplasia |
ORPHA:49 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
| Vascular Ehlers-Danlos Syndrome |
|
Dermal translucency, Alopecia, Melanocytic nevus, Redundant skin, Excessive wrinkled skin, Abnorm... |
ORPHA:286 |
| Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Postaxial polydactyl... |
ORPHA:110 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Focal Dermal Hypoplasia |
|
Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... |
OMIM:305600 |
| Sarcoidosis |
|
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:797 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Anteriorly placed anus, Malar flattening, Microcephaly, Brachycephaly, Macrocephaly, Craniosynost... |
OMIM:201750 |
| Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, Pericardial effusion, ... |
ORPHA:79318 |
| Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy |
ORPHA:68 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Uterine prolapse, Exaggerated startle response, Dystonia, Dysphagia |
ORPHA:438213 |
| African Trypanosomiasis |
|
Alopecia |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Abnormal palate morphology |
ORPHA:3042 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Pulmonary hypoplasia, Radial deviation of finger, Prominent finger... |
OMIM:309800 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
High palate, Dysphagia, Exaggerated startle response |
OMIM:619522 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
| Medulloblastoma |
|
|
OMIM:155255 |
| Meningioma, Familial, Susceptibility To |
|
|
OMIM:607174 |
