Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum |
OMIM:611867 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Con... |
ORPHA:861 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Polyhydramnios, Micrognathia, Downturned corners of mouth, Ga... |
OMIM:620186 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati... |
ORPHA:96170 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Pierre Robin Syndrome |
|
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Diabetic Embryopathy |
|
Micrognathia, Abnormality of the neck, Vertebral segmentation defect, Aplasia/Hypoplasia of the c... |
ORPHA:1926 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Optic nerv... |
OMIM:615583 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ... |
ORPHA:2516 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,... |
ORPHA:2306 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal d... |
ORPHA:93932 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o... |
ORPHA:3426 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Fe... |
OMIM:619503 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Adrenal hypoplasia, Micrognathia, Polyhydramnios, Orofacial cleft, Holoprosencephaly, Abnormality... |
ORPHA:2166 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate |
ORPHA:2015 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Anorectal anomaly, Abnormal aortic arch morphology, Hyp... |
ORPHA:567 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Hearing impairment, Cleft upper lip... |
OMIM:308050 |
Trisomy 13 |
|
High, narrow palate, Hydrops fetalis, Atrial septal defect, Cryptorchidism, Patent ductus arterio... |
ORPHA:3378 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Posterior ... |
OMIM:265380 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Cleft ... |
ORPHA:398156 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... |
OMIM:231060 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Microcephaly, Micrognathia, Dermatographic urticaria, Microtia, High pala... |
OMIM:248910 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defe... |
ORPHA:672 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High pal... |
OMIM:130720 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Sacral dimple, Low-set, posteriorly rotated ears, Scapul... |
ORPHA:1327 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Beaded ribs, Short neck, Micrognathia, Cardiomegaly, Flexion contracture, Hydrops... |
OMIM:616897 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Aplasia of the thymus, Short neck, Hypochromic microcytic anem... |
ORPHA:96123 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid... |
ORPHA:1703 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Microcephaly, Abnormality o... |
ORPHA:513456 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Optic atrophy, Simplified gyral pattern, Ce... |
OMIM:614261 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:614669 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Supernumerary tooth, Sensorineural hearing impairment, Abnormal cran... |
ORPHA:90024 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral fren... |
ORPHA:79113 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Vertebral segme... |
ORPHA:453499 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Microcephaly, Vertebr... |
ORPHA:521445 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Polyhydramnios, Micrognathia, Atrial septal defect, Atrioventricular canal de... |
ORPHA:3047 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, L... |
OMIM:617516 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Prominent metopic ridge, Premature birth, Abnorm... |
ORPHA:1597 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Intestinal malrotation... |
ORPHA:401935 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Atrial septal defect, Branchial fistula, Premature birth, Hyperlordosis, Nar... |
ORPHA:261330 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Microc... |
ORPHA:2994 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Short neck, Micrognathia, Asplenia, Hemivertebrae, Hydrops fetalis, High palate, ... |
ORPHA:99776 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Encephalomalacia, ... |
ORPHA:354 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... |
OMIM:141300 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Conductive hearing impa... |
ORPHA:199302 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... |
OMIM:602450 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Abnor... |
ORPHA:508498 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Stiff neck, Microgn... |
OMIM:617022 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Abnormal f... |
ORPHA:2162 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:352665 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Micrognathia, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Cerebral... |
ORPHA:171839 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Posteriorly rotated ears, Miscarriage, Micrognathia, Short neck, Cryptorchidism, M... |
ORPHA:1865 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Glossoptosis, Vertebr... |
OMIM:611209 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... |
OMIM:214800 |
Nuchal Bleb, Familial |
|
Stillbirth, Cystic hygroma, Fetal cystic hygroma |
OMIM:257350 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Shor... |
ORPHA:508488 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Hypoplasia... |
ORPHA:251061 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Microcephaly, ... |
ORPHA:1131 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Microcephaly, Micrognathia, Splenomega... |
OMIM:608540 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... |
ORPHA:324604 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Gastroesophageal reflux, ... |
ORPHA:280633 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Micrognathia, Mic... |
ORPHA:949 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Abnormal pinna morpholo... |
ORPHA:79321 |
Atelis Syndrome 1 |
|
Glue ear, Ventricular septal defect, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia... |
OMIM:620184 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... |
OMIM:235510 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... |
OMIM:619472 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Precocious pub... |
ORPHA:447980 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Edema, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioact... |
ORPHA:90673 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Fetal pyelectasis,... |
ORPHA:264450 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Polyhydramnios, Micrognathia, Fetal ascites, Advanced ossification of carpal bon... |
OMIM:215045 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac... |
OMIM:300373 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... |
ORPHA:90674 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Branchial cyst, Thin upper lip vermilion, Dental crowding, Ankle flexion c... |
ORPHA:435938 |
Trisomy 1Q |
|
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h... |
ORPHA:261344 |
Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, High palate, Atrial septal defect, Dandy-Walker malformation, ... |
ORPHA:314588 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Hepatomegaly, Kyphosis, Splenomegaly, Flexion contracture, Hydrops fetal... |
ORPHA:87876 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Patent foramen ovale, Widely patent sagittal suture, Posterior verte... |
OMIM:228520 |
Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Diffuse white mat... |
ORPHA:1600 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Microcephaly, Cryptorchidism, Velopharyngeal insuf... |
OMIM:192430 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral calcification, Hypogonadotropic hypogonadism, Microcephaly, Micrognathia, Aplasia/Hypopl... |
ORPHA:939 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydram... |
ORPHA:2059 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Microtia, Increased overbi... |
OMIM:618761 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... |
ORPHA:1834 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Optic atrophy, Ma... |
ORPHA:1914 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morpho... |
ORPHA:1988 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:602483 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Cleft lip, Cleft... |
OMIM:616898 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Cerebral calcification, Posteriorly rotated ears, Facial palsy, Microg... |
ORPHA:2780 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph... |
OMIM:616580 |
Isotretinoin Syndrome |
|
Sacral dimple, Micrognathia, Cleft palate, Microtia, Biparietal narrowing, Spina bifida occulta, ... |
ORPHA:2305 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, Premature rupture of membranes, High pa... |
OMIM:311900 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Microcephaly, Micrognathia, Cleft palate, Anterior creases of earlobe,... |
ORPHA:1727 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Microg... |
OMIM:208085 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Microtia, Macrocephaly, Neonatal... |
OMIM:612138 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, Polyhydramnios, High palate, ... |
OMIM:617746 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cleft palate, Glossop... |
ORPHA:1388 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Microcephaly, Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Small thena... |
OMIM:239800 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Abnormal rib morphology, Hy... |
ORPHA:93298 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mo... |
OMIM:617564 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Premature birth, Micrognathia, Microcephaly, Cupped ear, Antec... |
ORPHA:40366 |
Achondrogenesis, Type Ib |
|
Edema, Polyhydramnios, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Short ... |
OMIM:600972 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Partial agenesis of the c... |
OMIM:305450 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect,... |
ORPHA:2008 |
Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroe... |
ORPHA:138 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Polyhydramnios, High, narrow palate, Narrow palate, Secondary microcephaly, Darw... |
OMIM:612949 |
Phaver Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, A... |
ORPHA:2876 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Polyhydramnios, Micrognathia, Short neck, Hyd... |
ORPHA:93299 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Macrocepha... |
ORPHA:932 |
Glycine Encephalopathy 1 |
|
Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Cyanosis, Microcephaly, Microgn... |
ORPHA:3304 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Malar prominence, Micr... |
ORPHA:3459 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, C... |
OMIM:601186 |
Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Short lingual frenulum, Microcephaly, Hypoplasia ... |
ORPHA:293939 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular ... |
ORPHA:79328 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Short neck, Narrow mouth, Partial agenesis of the corpus callosum, Macrotia, Narrow... |
OMIM:620250 |
Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Hydrops fetalis, Hypoplasti... |
OMIM:215140 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Cutis marmorata, Microcephaly, Hypoplasia of the cochlea, Cupped ear, ... |
OMIM:613398 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia... |
ORPHA:3338 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Micrognathia, Abnormal rib morphology, Oligohydramnios, Cleft palate, Abnormal ... |
ORPHA:2145 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Limb joint contracture, Short... |
ORPHA:505237 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect |
OMIM:616589 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Atrial septal defect, Cerebellar vermis hypoplasia, Cleft lip, Abnormal ea... |
ORPHA:217017 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroidit... |
ORPHA:83471 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... |
ORPHA:794 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Ventricular septal defect, Microcephaly, Esophageal... |
OMIM:301030 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Short lingual frenulum, Anomalous ... |
ORPHA:2326 |
De Barsy Syndrome |
|
Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent veins ... |
ORPHA:2962 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Short neck, Cardiomegaly, M... |
OMIM:245600 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, Webbed neck, High palate, Biparietal narrowi... |
ORPHA:261337 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midlin... |
ORPHA:3429 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Hydrops fetalis, Widely ... |
OMIM:253220 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Simplif... |
OMIM:601390 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Cryptorch... |
ORPHA:1166 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Microcephaly, Carious teeth, Cleft palate, Protruding ear, Microtia, Hypogonadism, ... |
ORPHA:2316 |
Even-Plus Syndrome |
|
Short neck, Dysplastic corpus callosum, Patent foramen ovale, Vertebral clefting, Coronal cleft v... |
OMIM:616854 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615108 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... |
OMIM:615546 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Abnormal macrophage morpho... |
ORPHA:353 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Decreased fetal movement, Death in... |
ORPHA:85212 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failur... |
OMIM:269920 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Polyhydramnios, Short nec... |
ORPHA:96334 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Polyhydramnios, High, narrow palate, Gastroesopha... |
OMIM:616920 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoe... |
ORPHA:268249 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... |
ORPHA:95716 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno... |
ORPHA:2549 |
Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect, Hypoplasia of the maxilla, Narrow mouth, Mi... |
ORPHA:261295 |
Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Decreased fetal movement, Facial palsy, Polyhydramnios, Centrally nuclea... |
OMIM:255320 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Bifid uvula, Facial palsy, Cleft l... |
OMIM:301022 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... |
OMIM:615109 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Abnormal pinna morphology, Camptodactyly of... |
ORPHA:2839 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolap... |
OMIM:613177 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramn... |
OMIM:312870 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Hydrocephalus, Cupped ear, Patent ductus arteriosus, Hypoplast... |
OMIM:614846 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, Webbed neck, High palate, Widely spaced teeth, Atrial ... |
OMIM:617506 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, High palate, Low-set ears... |
OMIM:618388 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial... |
ORPHA:98915 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short neck, Cardiomegaly, Deep philtrum, Flat acetabular roof, Hypertension, Mi... |
OMIM:613320 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Short neck, Cleft lip, Increased nuchal translucency, Cryptorchidism, Cleft palate, ... |
OMIM:619110 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Microcephaly, Micrognathia, Er... |
ORPHA:2135 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Gastroesophageal reflux, Conductive hearing ... |
OMIM:607872 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hy... |
OMIM:253250 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Polyhydramnios, Micrognathia, Bilateral cleft lip and palate, Protrudin... |
OMIM:618829 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Hypothyroidism, Hearing impairment |
OMIM:617577 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormality of subcutaneous fat tissue, Premature birt... |
ORPHA:79325 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the cer... |
ORPHA:1296 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Hepatosplenomegaly, Microtia, Cystic hygroma |
ORPHA:221054 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Polyhydramnios, Micrognathia, Missing ribs,... |
ORPHA:3301 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasi... |
OMIM:608149 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect, Cleft palate, Anotia, Microtia |
OMIM:243440 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the m... |
OMIM:180849 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Cleft palate, Micrognathia |
OMIM:249710 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Hy... |
OMIM:158350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Apl... |
OMIM:102700 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, C... |
OMIM:615502 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion cont... |
OMIM:300868 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Microcephaly, Carious... |
ORPHA:1110 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Cleft palate, G... |
ORPHA:436003 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Abnormal form of the vert... |
ORPHA:581 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ... |
OMIM:208150 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:163976 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Microcephaly, Partial agenesis of the corp... |
OMIM:617478 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Protruding ear, High pala... |
OMIM:612474 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Thin upper lip vermilion, Microcephaly, Narrow mouth, Gingival overgrowth, Micr... |
OMIM:616977 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Perching Syndrome |
|
Cyanosis, Dysphagia, High palate, Scoliosis, Camptodactyly, Joint contracture |
OMIM:617055 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... |
OMIM:612530 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... |
OMIM:164210 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Relative macrocephaly, Posteriorly rotated ears, Decreased response to growth hormone stimulation... |
OMIM:618336 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Downturned ... |
OMIM:618371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, De... |
OMIM:614643 |
Congenital Heart Block |
|
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... |
ORPHA:60041 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Ventricular septal defect, Short neck, Microcephaly, Cleft ... |
OMIM:609654 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Short neck, Micrognathia, Partial agenesis of the corpus callosum, ... |
OMIM:210710 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hemivertebrae, Protruding ear,... |
OMIM:156200 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Spatulate ribs, T2 hypointense basal ganglia, Diffuse white matter abno... |
ORPHA:79255 |
Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Anterior rib cupping, Short neck, Polyhydramnios, Nonimmune hydrops fetal... |
OMIM:269250 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Genu valgum, Downturned corners of mouth... |
ORPHA:2983 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangiectasia, Biventricular hyper... |
ORPHA:101028 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Gastroesophageal reflux, Thoracic ... |
OMIM:301043 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Ectodermal dysplasia, Fused teeth, Hig... |
OMIM:613610 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Micr... |
OMIM:620369 |
Tetrasomy 5P |
|
Pericallosal lipoma, Cyanosis, Posteriorly rotated ears, Redundant neck skin, Micrognathia, Short... |
ORPHA:3309 |
Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Patent foramen ovale, Long philtrum, Wide anterior... |
ORPHA:96149 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Micrognathia, Cardiomegaly, Neonatal death, Hepatomegaly, Premature birth, Nonimm... |
OMIM:608013 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Lo... |
ORPHA:2886 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate, Protruding ear, Decreased testicular size, Hearing impairment |
ORPHA:85273 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Downturned ... |
ORPHA:280 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the... |
ORPHA:314679 |
Down Syndrome |
|
Prenatal double bubble sign, Redundant neck skin, Atrial septal defect, Conductive hearing impair... |
OMIM:190685 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Patent ductus arteriosus, Duodenal stenosi... |
ORPHA:2547 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal def... |
OMIM:615582 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... |
OMIM:619981 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, M... |
OMIM:613603 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the brainstem, Congenital contracture, Pachy... |
OMIM:236670 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... |
OMIM:615948 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Increased head circumference, Ga... |
OMIM:300967 |
Lymphatic Malformation 6 |
|
Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Gastroesophagea... |
OMIM:616843 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Posteriorly rotated ears, Microcephaly, Cleft lip, Narrow mouth, Cleft palate, Downturned corners... |
OMIM:618089 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Thickened ribs, Abnormal heart valve morphology, Short neck, Kyph... |
OMIM:230500 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... |
ORPHA:79329 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Ventricular septal defect, Cleft upper lip, Short neck, Sensorineural ... |
OMIM:214300 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Micrognathia, Microtia, Low-set ears, Macrocephaly, Retrognathia |
ORPHA:171829 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Microcephaly, Nephrogenic diabetes ins... |
OMIM:613404 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... |
ORPHA:2136 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Micrognathia, N... |
ORPHA:246 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contra... |
OMIM:618815 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... |
ORPHA:166100 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching, Microcephaly |
OMIM:107500 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig... |
OMIM:224690 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Abruzzo-Erickson Syndrome |
|
Hearing impairment, Macrotia, Cleft palate, Protruding ear |
OMIM:302905 |
Peters Plus Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Bicuspid pulmonary valve, Webbed neck, Abnormal pulmona... |
ORPHA:709 |
Diprosopus |
|
External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac sep... |
ORPHA:1681 |
Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp... |
ORPHA:705 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Cleft palate, Platyspondyly, Low-set... |
ORPHA:85166 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... |
OMIM:612561 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcephaly,... |
ORPHA:90308 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, High palate, Gastroesoph... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, High palate, Gastroesoph... |
ORPHA:98914 |
Coxoauricular Syndrome |
|
Microtia, Hip dislocation, Hearing impairment |
OMIM:122780 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Micrognathia, Cardiomegaly, High, narrow palate, Hydrops fet... |
ORPHA:3472 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotr... |
OMIM:306955 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microtia, Microcephaly |
OMIM:608393 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, C... |
ORPHA:3412 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... |
ORPHA:1596 |
Branchiooculofacial Syndrome |
|
Short neck, Micrognathia, Premature graying of hair, Gastroesophageal reflux, Conductive hearing ... |
OMIM:113620 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion c... |
ORPHA:284417 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, Gastroesophageal reflux, ... |
OMIM:134780 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Premature birth, Polyhydramnios, Protruding tongue, Micrognathia, Hydrops fetalis, C... |
ORPHA:50945 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... |
ORPHA:529962 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Cerebellar vermis hypoplasia, Genu recurvatum, Hamartoma of tongue, Micrognathia, ... |
OMIM:619775 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Short neck, Micr... |
OMIM:617925 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Megalencephaly, Kyphosis,... |
OMIM:603387 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Cleft palate, Thin vermilion border, Overfolded helix, Retrogn... |
ORPHA:2631 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis, ... |
OMIM:200610 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Wrist flexion contracture, Dislocated radi... |
OMIM:260660 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... |
OMIM:618021 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Ex... |
OMIM:618619 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Ragged-red muscle fibers, Abnormal cerebral ... |
ORPHA:477774 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... |
OMIM:601808 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Micrognathia |
OMIM:183700 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia, Postnatal macrocephaly, Gastroesophageal reflux, Periventricular white matter hyperinte... |
OMIM:618158 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n... |
OMIM:612289 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture... |
OMIM:300166 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Cerebellar vermis hypoplasia, Edema, Flexion contracture, Abnormality of the amn... |
OMIM:212065 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, Secundum atrial septal d... |
ORPHA:2257 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad neck, Short neck, Cryptorchidism, Narrow philtrum, Cuboid-shaped vertebral bodies, Thick lo... |
ORPHA:163654 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the neck, Gastroesophageal reflux, Conductive hearing i... |
ORPHA:1606 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, ... |
OMIM:610536 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
OMIM:300712 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Prominent metopic ridge, Palpebral edema, Tente... |
ORPHA:363659 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Gingival b... |
ORPHA:335 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... |
OMIM:300946 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Limited elbow movement, ... |
ORPHA:268 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... |
ORPHA:94066 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Papilledema, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:371428 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Polyhydramnios, Micrognathia, Flexion contractur... |
ORPHA:2671 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Boomerang Dysplasia |
|
Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test, Polyhydramn... |
ORPHA:1263 |
Phocomelia, Schinzel Type |
|
Micrognathia, Short neck, Cryptorchidism, High, narrow palate, Meningocele, Aplasia/Hypoplasia of... |
ORPHA:2879 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Microtia, Everted lower lip ... |
OMIM:615162 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial septal de... |
OMIM:617063 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... |
ORPHA:98818 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Microcephaly, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teet... |
ORPHA:2728 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Telangiectasia of the skin, Recurrent shoulder dislocation, Poor ... |
OMIM:212112 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, Long... |
ORPHA:357175 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal ce... |
ORPHA:83601 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Porencephalic cyst, Webbed neck, Anteri... |
OMIM:117650 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Flexion c... |
ORPHA:2712 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic h... |
OMIM:606164 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Microcephaly... |
OMIM:614701 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Micrognathia,... |
OMIM:255800 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormality of the philtrum, Non-mi... |
ORPHA:1770 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Nonimmune hydrops feta... |
OMIM:618052 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformat... |
OMIM:150230 |
Esophageal Atresia |
|
Subglottic stenosis, Maternal diabetes, Polyhydramnios, Gastrointestinal dysmotility, Anorectal a... |
ORPHA:1199 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic st... |
OMIM:615415 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Narrow mouth, Pulmonary lymphangie... |
OMIM:616006 |
Noonan Syndrome 7 |
|
Atrial septal defect, Thickened helices, Short neck, Cubitus valgus, Dysphagia, Webbed neck, Low ... |
OMIM:613706 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Decreased fetal movement, Cerebellar vermis hypoplasia, Death in infancy, Cleft sof... |
ORPHA:99742 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne... |
ORPHA:261318 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Palpebral edema, Micrognathia, Cryptorchidism, Jaundice, Optic nerve dysplasia, Cle... |
OMIM:214110 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukop... |
ORPHA:124 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Sho... |
OMIM:300514 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... |
ORPHA:466791 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebr... |
ORPHA:263508 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Microcephaly, Splenomegaly, Abnormality of neuronal migration, Hydr... |
ORPHA:2204 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Micrognathia, S... |
OMIM:613805 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cupped ear, Microtia, Short philtrum, L... |
OMIM:619873 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Short neck, Micrognathia, H... |
OMIM:261540 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Left ventricular noncompaction cardiomyopathy, Reduced cerebral white matter vo... |
OMIM:620167 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces, Facial hypoto... |
ORPHA:261311 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bif... |
ORPHA:235 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Protruding ear, Webbed neck, Atrial septal ... |
OMIM:613458 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r... |
ORPHA:525731 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Abnormal cortical gyration,... |
OMIM:614576 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft li... |
ORPHA:1580 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Tented upper lip vermilion, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Microcephaly, ... |
OMIM:616723 |
Proximal 16P11.2 Microduplication Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Congenital diaphragmatic h... |
ORPHA:370079 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic ... |
OMIM:613309 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, Atrial septal defect, Hypo... |
ORPHA:79345 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Conductive hearing... |
ORPHA:99843 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Micrognathia, Short neck, Deep philtrum, Webbed neck, High palate, Gastroesophage... |
OMIM:115150 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short neck, Abnormality of the endocrine system, Cryptorchidism, Microcephaly, Sensorineural hear... |
ORPHA:464288 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... |
OMIM:615524 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... |
OMIM:253700 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Tracheal atresia, Premature birth, Absent septum pellucidum, P... |
ORPHA:2189 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Intrauterine... |
ORPHA:79282 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricusp... |
OMIM:600001 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Retrognathia, Cleft palate, Congenital hypothyroidism |
ORPHA:1226 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... |
OMIM:616835 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Genu valgum, High palate, Hypoplasia of the ear cartilage, Atr... |
ORPHA:1035 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, Neuronal loss in the cerebral cortex, Aplasia/Hypoplasia of the external ear, Vascu... |
ORPHA:168486 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... |
ORPHA:2919 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Oligodontia, Prominent metopic ridge, Pericardial effusion, Cryp... |
ORPHA:1272 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal... |
OMIM:619534 |
Generalized Arterial Calcification Of Infancy |
|
Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Edema, Car... |
ORPHA:51608 |
Ohdo Syndrome, X-Linked |
|
Posteriorly rotated ears, Hiatus hernia, Micrognathia, Cryptorchidism, Narrow mouth, Long philtru... |
OMIM:300895 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... |
OMIM:154500 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Irregular verte... |
OMIM:143095 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Short neck, Hypoplasia of ... |
ORPHA:178303 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Cleft upper lip, Microgna... |
OMIM:608572 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema... |
OMIM:601927 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max... |
ORPHA:87 |
Cardiofaciocutaneous Syndrome |
|
Short neck, Lymphedema, Webbed neck, High palate, Biparietal narrowing, Atrial septal defect, Thi... |
ORPHA:1340 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Webbed neck, Anotia, High palate, Agen... |
ORPHA:261112 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:319487 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... |
ORPHA:163979 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Microtia, Overfolded helix |
OMIM:612290 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Craniosynostosis, Oligohydramnios, Wide mouth, Microtia, Widely spac... |
OMIM:619056 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate... |
OMIM:619227 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Cryptorchidism, Hydroc... |
OMIM:612938 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... |
OMIM:602535 |
Desmosterolosis |
|
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... |
ORPHA:35107 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen... |
ORPHA:52055 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Microtia, Thin verm... |
OMIM:301025 |
Ohdo Syndrome |
|
Micrognathia, Cryptorchidism, Hypoplasia of teeth, Long philtrum, Microtia, Widely spaced teeth, ... |
OMIM:249620 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Gastroesophag... |
ORPHA:353281 |
Distal Deletion 10Q |
|
Micrognathia, Protruding ear, High palate, Atrial septal defect, Cavum septum pellucidum, Spina b... |
ORPHA:96148 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Glue ear, Dental crowding, Short neck, Micrognathia, Downturned corn... |
ORPHA:3310 |
Seckel Syndrome 7 |
|
Microcephaly, Abnormal carpal morphology, Madelung deformity, Central hypothyroidism, Microtia, L... |
OMIM:614851 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis, Primary microcephaly |
OMIM:619340 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insuff... |
OMIM:619314 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Death in infancy, Prematurely aged appearance, Lymph... |
ORPHA:1318 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Smooth philtrum, Dental ... |
OMIM:620370 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Polyhydramnios, Beaded ribs, Short neck, Protruding tongue, Increased nuchal ... |
OMIM:200600 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Premature birth, Camptodactyly of finger, Hiatus hernia,... |
ORPHA:2065 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... |
ORPHA:245 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, Reduced cerebral white matter volume, High, narrow palate, Patent duc... |
OMIM:618076 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Short neck, Congenital diaphragmatic hernia, P... |
OMIM:616546 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis, Adrenal hypoplasia |
OMIM:613124 |
Brain-Lung-Thyroid Syndrome |
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Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Microcep... |
ORPHA:209905 |
Kagami-Ogata Syndrome |
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Pursed lips, Premature birth, Diastasis recti, Kyphoscoliosis, Micrognathia, Short neck, Large pl... |
ORPHA:254519 |
Ritscher-Schinzel Syndrome 1 |
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Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
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Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... |
ORPHA:3236 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217093 |
Atelosteogenesis, Type Ii |
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Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Micrognathia, Abnormality of the wris... |
ORPHA:93316 |
Tetraploidy |
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Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of the... |
ORPHA:3305 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Congenital Pulmonary Lymphangiectasia |
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Hepatomegaly, Tricuspid regurgitation, Cyanosis, Splenomegaly, Congestive heart failure, Hydrops ... |
ORPHA:2414 |
Hsd10 Disease, Infantile Type |
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Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cardiomegaly, Gastrointestinal dysmotility, Opt... |
ORPHA:391428 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Deafness-Hypogonadism Syndrome |
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Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, Microdontia, ... |
ORPHA:536467 |
Hardikar Syndrome |
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Premature rupture of membranes, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Thoraco... |
OMIM:301068 |
Feingold Syndrome 1 |
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Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent... |
OMIM:164280 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmonary arteria... |
OMIM:619003 |
Microphthalmia, Syndromic 8 |
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Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
Meacham Syndrome |
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Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... |
OMIM:608978 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217085 |
Mucopolysaccharidosis, Type Ivb |
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Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Hepatomegaly, Hyperlordosis, Hyp... |
OMIM:253010 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... |
ORPHA:97290 |
Progressive Supranuclear Palsy |
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Impulsivity, Depression, Abnormal synaptic transmission, Dementia, Cognitive impairment, Dysphagi... |
ORPHA:683 |
Bullous Dystrophy, Hereditary Macular Type |
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Death in childhood, Acrocyanosis, Microcephaly |
OMIM:302000 |
You-Hoover-Fong Syndrome |
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Kyphoscoliosis, Microcephaly, Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation o... |
OMIM:616954 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... |
ORPHA:740 |
Combined Oxidative Phosphorylation Deficiency 47 |
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Hepatomegaly, Posteriorly rotated ears, Microcephaly, Short neck, Cryptorchidism, Sensorineural h... |
OMIM:618958 |
Hydrops Fetalis, Nonimmune |
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Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Mucopolysaccharidosis Type 7 |
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Anterior beaking of lower thoracic vertebrae, Short neck, Lymphedema, Splenomegaly, Hydrops fetal... |
ORPHA:584 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at... |
OMIM:616749 |
Immunodeficiency 42 |
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Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353277 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... |
OMIM:240300 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Ventricular septal defect, Micrognathia, Short neck, Abnormal rib morphology, Downturned corners ... |
ORPHA:93267 |
Meier-Gorlin Syndrome 4 |
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Genu recurvatum, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Micrognathia, Patellar ... |
OMIM:613804 |
Schilbach-Rott Syndrome |
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Posteriorly rotated ears, Microcephaly, Micrognathia, Submucous cleft hard palate, Microtia, Narr... |
OMIM:164220 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Broad neck, Short neck, Cubitus valgus, Anterior scalloping of vertebral bodies, Cuboid-shaped ve... |
OMIM:611717 |
Ear-Patella-Short Stature Syndrome |
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Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... |
ORPHA:2554 |
Trisomy 8Q |
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Low-set, posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft li... |
ORPHA:1752 |
Alstrom Syndrome |
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Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:203800 |
Zttk Syndrome |
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Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
Pyle Disease |
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Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Proteus-Like Syndrome |
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Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Genu recurvatum, Venous i... |
ORPHA:2969 |
Idiopathic Neonatal Atrial Flutter |
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Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... |
ORPHA:45452 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Thin upper lip vermilion, Posteriorly rotated ears, Cryptorchidism, Narrow mouth, Cleft palate, C... |
OMIM:601353 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Van Der Woude Syndrome 2 |
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Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Microcephaly, Patent ductus arterios... |
ORPHA:2282 |
Monosomy 18P |
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Micrognathia, Carious teeth, Short neck, Cleft palate, Protruding ear, Downturned corners of mout... |
ORPHA:1598 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
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Posteriorly rotated ears, Micrognathia, Wide mouth, Oligodontia, Microtia, Long philtrum, Recurre... |
OMIM:602562 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
Acrofacial Dysostosis, Cincinnati Type |
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Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Patent ductus arteriosus, Cleft ... |
OMIM:616462 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Adams-Oliver Syndrome 5 |
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Hypersplenism, Splenomegaly, Esophageal varix, Pulmonary arterial hypertension, Pulmonic stenosis... |
OMIM:616028 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Congenital hip dislocation, Anterior concavity of thoracic vertebra... |
OMIM:216340 |
Opitz Gbbb Syndrome |
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Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial... |
ORPHA:2745 |
Mccune-Albright Syndrome |
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Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Severe B lymphocytopenia, Micrognathia, Microdontia, Atrial septal defect, Intrauterine growth re... |
OMIM:620005 |
Bronchopulmonary Dysplasia |
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Hyperoxemia, Premature birth, Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Absent gallbladder, Absent septum pellucidum, Microcephaly, Conductive hearing impairment, Sensor... |
OMIM:618500 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Thrombocytopenia, Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele test... |
OMIM:616738 |
Trichohepatoenteric Syndrome 1 |
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