Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate |
OMIM:611867 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth ... |
ORPHA:861 |
Emanuel Syndrome |
|
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Hearing impairment, Sacral d... |
OMIM:609029 |
Emanuel Syndrome |
|
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Multiple joint contractures, Microgn... |
ORPHA:96170 |
Diabetic Embryopathy |
|
Spinal dysraphism, Micrognathia, Abnormality of the pulmonary artery, Cleft palate, Hearing impai... |
ORPHA:1926 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Webbed neck, Narrow palate, T lymphocyto... |
OMIM:618223 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Micrognat... |
ORPHA:2516 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Bilateral sensorineural hearing impairment, Cleft ... |
ORPHA:2306 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Cleft palate |
OMIM:601355 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect,... |
OMIM:147770 |
Fg Syndrome Type 1 |
|
Broad neck, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pitu... |
ORPHA:93932 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Polyhydramnios, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holoprosenc... |
ORPHA:2166 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma... |
OMIM:113650 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft pa... |
OMIM:619503 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Micrognathia, Pierre-Robin sequence |
OMIM:172880 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Thin upper lip vermilion, Short neck, Low-set, posteriorly rotated ears, Cleft palate |
ORPHA:2015 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Polyhydramnios, Conductive hearing impairment, Hypoplasia of the thy... |
ORPHA:567 |
Trisomy 13 |
|
Abnormal antihelix morphology, Optic atrophy, Median cleft lip, Abnormal rib morphology, Cleft pa... |
ORPHA:3378 |
Mullegama-Klein-Martinez Syndrome |
|
Sensorineural hearing impairment, Long philtrum, Abnormal cardiac septum morphology, Microtia, Mi... |
OMIM:301022 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Micrognathia, Butterfly vertebrae, Poste... |
OMIM:265380 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Bifid uvula, Hip disl... |
ORPHA:672 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Ventricular septal defect, Microtia, Micrognathia, ... |
ORPHA:398156 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Mild intrauterine growth retardation,... |
OMIM:308050 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... |
OMIM:231060 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, High palate, Dermatographic urticaria, Microtia, Micrognathia, Sco... |
OMIM:248910 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
OMIM:130720 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Short nec... |
ORPHA:1703 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Dental malocclusion, Sacral dimple, Mandibular prognathia, High palate, ... |
ORPHA:1327 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Micrognathia, Pleural effusion, Large fleshy ears, Hypertrop... |
OMIM:616897 |
Monosomy 22 |
|
Retrognathia, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Shor... |
ORPHA:96123 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Maternal ... |
ORPHA:226307 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, Hypoplasia ... |
OMIM:614261 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Velopharyngeal insufficiency, Abnormality of ... |
OMIM:182290 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal antihelix morphology, Camptodactyly of finger, Hypothyroidism, Atrioventricular canal de... |
ORPHA:3047 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Gastroesophageal reflux, Everted upper lip vermilion, Ventricular s... |
ORPHA:513456 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Widely space... |
ORPHA:90024 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypothyroidism, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal autonom... |
ORPHA:453499 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intestinal ma... |
ORPHA:401935 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Vertebrobasilar dolichoectasia, Macrotia, Mandibular prognathia, Short philtrum, Thyroid hypoplas... |
ORPHA:521445 |
Distal Monosomy 17Q |
|
Patent ductus arteriosus, Abnormality of the philtrum, Optic atrophy, Microtia, Abnormal cardiac ... |
ORPHA:1597 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, Mi... |
ORPHA:79113 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Retrognathia, Truncus arteriosus, Ventricular septal defect, Pineal cys... |
OMIM:617516 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Asplenia, Micrognathia, Biparietal narrowing, Hip disloc... |
ORPHA:99776 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Micrognathia, Glossoptosis |
ORPHA:718 |
Auriculocondylar Syndrome 2 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:614669 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Ectopic anus, Microtia, Microretrognathia, Delayed puber... |
ORPHA:2994 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Polyhydram... |
ORPHA:199302 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
ORPHA:2789 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... |
OMIM:217095 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Smooth philtrum, Cleft palate, Ventricular septal de... |
ORPHA:261330 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Encephalomalacia, Optic atrophy, Hepatosplenomegaly, Dysphagia, Gingival... |
ORPHA:354 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Kyphosis, Delayed eruption of teeth, Microtia, Tongue atrop... |
OMIM:141300 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Oral synechia, Everted lower lip vermilion, Narrow mouth, Cleft palate |
ORPHA:2016 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... |
OMIM:602450 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Long philtrum, Microtia, Micrognathia, Hydrocephalus, Radioulnar synost... |
ORPHA:171839 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Fetal akinesia sequence, Stiff neck, Thoracic sco... |
OMIM:617022 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Micrognathia, Abnormal optic disc morphology, ... |
ORPHA:508498 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... |
ORPHA:1991 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Encephalocele, Hydrops fetalis, Short ribs, Micrognathia, Increased placenta... |
ORPHA:1865 |
Congenital Hypothyroidism |
|
Hypotension, Hypothyroidism, Optic atrophy, Anterior hypopituitarism, Intestinal obstruction, Hea... |
ORPHA:442 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Spinal dysraphism, Abnormality of neuronal migration, Optic atroph... |
ORPHA:2162 |
Bor Syndrome |
|
Retrognathia, Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, En... |
ORPHA:107 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... |
ORPHA:860 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Conductive hearing impairment, Micrognathia, Butterfly vertebrae, Camptodactyly, Cholesteatoma, S... |
OMIM:611209 |
Charge Syndrome |
|
Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Micrognathia, Secundum atrial septal def... |
OMIM:214800 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Hypogonadism, Micro... |
ORPHA:3216 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, High palate, ... |
ORPHA:1131 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Large fleshy ears, Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Dysphagia, ... |
ORPHA:280633 |
Nuchal Bleb, Familial |
|
Fetal cystic hygroma, Cystic hygroma, Stillbirth |
OMIM:257350 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Flexion contracture, Hypogonadism, Death in infancy, Abnormality of the amniotic fl... |
OMIM:608540 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased circulating cortisol level, Hip dislocation, Holoprosencephaly, Cle... |
OMIM:146510 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap... |
OMIM:610706 |
Acrocraniofacial Dysostosis |
|
Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the ... |
ORPHA:949 |
Classic Multiminicore Myopathy |
|
Mandibular prognathia, High palate, Multiple joint contractures, Muscle fiber atrophy, Generalize... |
ORPHA:324604 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Alg3-Cdg |
|
Subcortical cerebral atrophy, High palate, Abnormal uvula morphology, Abnormal cerebral morpholog... |
ORPHA:79321 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial e... |
OMIM:235510 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In... |
ORPHA:90674 |
Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular s... |
ORPHA:261344 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Micrognathia,... |
OMIM:215045 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Truncus arteriosus, Micrognathia,... |
OMIM:188400 |
Viss Syndrome |
|
Aortic tortuosity, Hypothyroidism, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue... |
OMIM:619472 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Global brain atrophy, Truncus arteriosus, Cleft maxillary alveolar... |
ORPHA:508488 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Gastroesophageal reflux, Pulmonary arterial hypertension, Precocious puberty, Ve... |
ORPHA:447980 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Polyhydramnios, Delayed closure of the anterior fontanelle, Conductiv... |
OMIM:300373 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Conductive hearing impairment, Multiple joint contractures,... |
ORPHA:264450 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Lip pit, Facial palsy, Micrognat... |
ORPHA:52429 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Knee flexion contracture, Gastroesophageal reflux, Mandibular prognathia, Sensorineural hearing i... |
ORPHA:435938 |
Fibrochondrogenesis 1 |
|
Camptodactyly, Short neck, Cleft palate, Widely patent coronal suture, Patent foramen ovale, Shor... |
OMIM:228520 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Long philtrum, Microtia, Micrognathia, Vertebral segme... |
ORPHA:1988 |
Distal Tetrasomy 15Q |
|
Flexion contracture, Micrognathia, Camptodactyly, Cupped ear, Hydrocephalus, Atrial septal defect... |
ORPHA:314588 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Sialidosis Type 2 |
|
Pedal edema, Splenomegaly, Flexion contracture, Hydrops fetalis, Kyphosis, Skeletal muscle atroph... |
ORPHA:87876 |
Fryns Syndrome |
|
Non-midline cleft lip, Polyhydramnios, Cerebral cortical atrophy, Ectopic anus, Abnormal cardiac ... |
ORPHA:2059 |
3-Hydroxyisobutyric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:939 |
Monosomy 18Q |
|
Hypothyroidism, Bilateral conductive hearing impairment, Secundum atrial septal defect, Biparieta... |
ORPHA:1600 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno... |
ORPHA:226316 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Micrognathia, Abnormal intestine morphology, Short neck, Abnormal rib ... |
ORPHA:1834 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Optic atrophy, Microtia, Hydrocephalus, Macroglossia, Short neck, Intrauterine ... |
ORPHA:1914 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... |
OMIM:265000 |
Velocardiofacial Syndrome |
|
Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Abnormality of the ear, Interrupt... |
OMIM:192430 |
Catifa Syndrome |
|
Mild microcephaly, Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Cleft lip, ... |
OMIM:618761 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Death in infancy, Micrognathia, Jaundice, Nephro... |
OMIM:208085 |
Au-Kline Syndrome |
|
Bifid tongue, Bifid uvula, Supernumerary nipple, Prominent metopic ridge, Lipomyelomeningocele, C... |
OMIM:616580 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Pos... |
OMIM:616898 |
Isotretinoin Syndrome |
|
Sacral dimple, Microtia, Micrognathia, Biparietal narrowing, Spina bifida occulta, Abnormality of... |
ORPHA:2305 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Delayed cranial suture closure, Hyperlordosis, Conductive hearing impairment, Delay... |
ORPHA:2780 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Asplenia, Broad neck, Micrognathia, Prominent metopic ridge, Uplifted earlobe, Cu... |
OMIM:617746 |
Meier-Gorlin Syndrome 8 |
|
Microtia, Micrognathia, Bilateral cryptorchidism, Narrow mouth, Low-set ears, Intrauterine growth... |
OMIM:617564 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical... |
ORPHA:93298 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, High pala... |
ORPHA:40366 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Microtia, Micrognathia, Abnormal vertebral morpho... |
OMIM:239800 |
Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Micrognathia, Hypoplasti... |
OMIM:601186 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Polyhydramnios, Flexion contracture, Microtia, Macrocephaly, Fragile ... |
OMIM:612138 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint dislocation, Hyperthyroidism, Truncus arteriosus,... |
ORPHA:2008 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Multiple rib fractures, Macrocephal... |
ORPHA:93299 |
Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Multiple joint contractures, Micrognathia, Camptodact... |
OMIM:305450 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Short ribs, Breec... |
OMIM:600972 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical... |
ORPHA:932 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Short neck, Hepatomegaly, Gingival overgrowth, Hearing impairment, Splenomeg... |
OMIM:253220 |
Auriculocondylar Syndrome 1 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:602483 |
Charge Syndrome |
|
Polyhydramnios, Aortic arch aneurysm, Optic atrophy, Delayed eruption of teeth, Anterior hypopitu... |
ORPHA:138 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, P... |
OMIM:612949 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Macrotia, High palate, Microgn... |
ORPHA:3304 |
Phaver Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Myelomeningocele, Ventricular septal defe... |
ORPHA:2876 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Webbed neck, Microtia, Micrognathia, Oligohydramnios, Abnormal rib... |
ORPHA:2145 |
Alg9-Cdg |
|
Delayed cranial suture closure, Pericardial effusion, Micrognathia, Abnormal left ventricular out... |
ORPHA:79328 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Sacral dimple, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Micr... |
OMIM:301030 |
Distal 22Q11.2 Microduplication Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Biparietal narrowing, Smoot... |
ORPHA:261337 |
Wilson-Turner Syndrome |
|
Microtia, Micrognathia, Malar prominence, Thin upper lip vermilion, Cryptorchidism, Hypogonadotro... |
ORPHA:3459 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Mandibular prognathia, Microtia, Oligodontia, Short philtrum, Cere... |
ORPHA:217017 |
Parc Syndrome |
|
Cleft palate, Microretrognathia |
OMIM:600331 |
Greenberg Dysplasia |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Micrognathia, Nonimmune hydrops fe... |
OMIM:215140 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Retrognathia, Sacral dimple, Macrotia, High palate, Long philtrum, Ventricular septal defect, Cer... |
ORPHA:505237 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Opt... |
ORPHA:794 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Death in infancy, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Micrognathia, Interrupted aortic arc... |
ORPHA:1727 |
Warsaw Breakage Syndrome |
|
High palate, Ventricular septal defect, Wide mouth, Hypoplasia of the cochlea, Cutis marmorata, C... |
OMIM:613398 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix, Splenomegaly, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ... |
ORPHA:83471 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Patent foramen ovale, Upper eyelid edema, High palate, ... |
ORPHA:293939 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Micrognathia, Elbow flexion contracture, Microdontia, Hip dislocation, Disl... |
OMIM:245600 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Hypogonadism, Microtia, Facial palsy, Everted lower lip vermilion,... |
ORPHA:2316 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Conductive hearing impairment, Micrognathia, Camptodactyly, Periventricular ... |
OMIM:601390 |
De Barsy Syndrome |
|
Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Progeroid facial appearanc... |
ORPHA:2962 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Cyanosis, Sensorineural hearing impairment, Pu... |
ORPHA:2326 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Sensorineural hearing impair... |
ORPHA:95716 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Microtia, Micrognathia, Abnormality of the parathyroid gland, Cleft palate... |
ORPHA:3429 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Cerebral cortical atrophy, Ventricular... |
ORPHA:1166 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Micrognathia, Periventricula... |
OMIM:615546 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Atrioventricular canal defect, Conductive hearing impairment, Sensorineura... |
ORPHA:2549 |
Fetal Gaucher Disease |
|
Fetal akinesia sequence, Splenomegaly, Flexion contracture, High palate, Hydrops fetalis, Death i... |
ORPHA:85212 |
Cowden Syndrome 5 |
|
Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi... |
OMIM:615108 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Spinal dysraphism, Flexion contracture, Micrognathia, Camptodactyly, Redundant ne... |
ORPHA:96334 |
Even-Plus Syndrome |
|
Vertebral clefting, Patent foramen ovale, High palate, Microtia, Hypodontia, Agenesis of corpus c... |
OMIM:616854 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... |
ORPHA:353 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Hydrops fetalis, High palate, Hydrocephalus, Congestive heart failure, Hepatomeg... |
OMIM:269920 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Global brain atrophy, Everted lower lip vermilion, Promi... |
OMIM:616920 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Microtia, Wolff-Parkinson-White syndrome, Macrocephaly, Atrial septal defect, Hypo... |
ORPHA:261295 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Ventricular septal defect, Reduced alpha/beta synthesis ratio, Macroglo... |
OMIM:301040 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth, Protruding ear |
ORPHA:3448 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Anotia, Microtia, Micrognathia, Bifid thoracic verteb... |
ORPHA:268249 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Microtia, Spina bifida, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia ... |
ORPHA:2839 |
Tarp Syndrome |
|
Short sternum, High palate, Optic atrophy, Microtia, Glossoptosis, Micrognathia, Tongue nodules, ... |
OMIM:311900 |
Cowden Syndrome 6 |
|
Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi... |
OMIM:615109 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Broad neck, Micrognathia, Cryptorchidism, Tented upper lip vermilion, Low-set ears, ... |
OMIM:618388 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h... |
OMIM:607872 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Hearing impairment, Goiter |
OMIM:617577 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Exaggerated median tongue furrow, Supernumerary nipple, Cervical ribs, Hepatoblas... |
OMIM:312870 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Progeroid facial appearanc... |
OMIM:613177 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen... |
OMIM:255320 |
Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Optic atrophy, Microtia, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Miss... |
ORPHA:3301 |
Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Cardiomegaly, Hydrops fetalis, Pericardial constriction, ... |
OMIM:253250 |
Myhre Syndrome |
|
Pericardial effusion, Camptodactyly, Short neck, Skeletal muscle hypertrophy, Cleft palate, Heari... |
OMIM:139210 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Broad neck, Bifid uvula, Optic nerve hypoplasia, Short neck, Peripheral pulmonary... |
OMIM:617506 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... |
OMIM:609166 |
Kagami-Ogata Syndrome |
|
Retrognathia, Patent ductus arteriosus, Splenomegaly, Flexion contracture, Diastasis recti, Long ... |
OMIM:608149 |
Hennekam-Beemer Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Hypotension, Conductive hearing impairme... |
ORPHA:2135 |
X-Linked Intellectual Disability, Van Esch Type |
|
Retrognathia, Microtia, Coronal craniosynostosis, Type II diabetes mellitus, Decreased testicular... |
ORPHA:163976 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Branchial anomaly, Wide mouth, J... |
ORPHA:1296 |
Acrocephalopolydactyly |
|
Microtia, Hepatosplenomegaly, Short neck, Cystic hygroma, Genu recurvatum |
ORPHA:221054 |
Alg8-Cdg |
|
Premature birth, Leukoencephalopathy, Anemia, Hydrops fetalis, Cerebral cortical atrophy, Optic a... |
ORPHA:79325 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Polyhydramnios, Premature thelarche, Flexion contracture, Patella... |
OMIM:180849 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles, Abnormal pin... |
OMIM:221300 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Polyhydramnios, Gastroesophageal reflux, High palate, Microtia, Micrognathia, Hyp... |
OMIM:618829 |
Synaptic Congenital Myasthenic Syndromes |
|
Pulmonary arterial hypertension, Abnormality of the knee, Mandibular prognathia, High palate, Dys... |
ORPHA:98915 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect, Coarctation o... |
OMIM:615502 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Deat... |
OMIM:617478 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Macrotia, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch mor... |
ORPHA:1110 |
Cowden Syndrome 1 |
|
Hypothyroidism, Colonic diverticula, Micrognathia, Ovarian carcinoma, Furrowed tongue, Ovarian cy... |
OMIM:158350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, Wrist flexion contracture, Glossoptosis, Microtia, Micrognathia, Lop ear... |
ORPHA:436003 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Flexion contracture, Cerebral cortical atrophy, Increased head circumference, Mic... |
OMIM:300868 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Torticollis, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Anotia, Microtia, Micrognathia, Cleft palate |
OMIM:243440 |
Auriculocondylar Syndrome |
|
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... |
ORPHA:137888 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam... |
OMIM:612474 |
Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... |
ORPHA:3384 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Micrognathia, Elbow contractu... |
OMIM:208150 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... |
ORPHA:581 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Microtia, Widely spaced t... |
OMIM:612530 |
Turnpenny-Fry Syndrome |
|
Polyhydramnios, Conductive hearing impairment, Microdontia, Hypoplasia of the primary teeth, Lumb... |
OMIM:618371 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Delayed eruption of primary teeth, Glossoptosis, Microtia, Microgn... |
OMIM:616367 |
Perching Syndrome |
|
Cyanosis, High palate, Camptodactyly, Scoliosis, Dysphagia, Joint contracture |
OMIM:617055 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Polyhydramnios, Primary microcephaly, Micrognathia, Hip dislocat... |
ORPHA:3472 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Decreased response to growth hormone stimulation test, Broad neck, Microtia, Micrognathia, Bilate... |
OMIM:618336 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly, Severe platyspondyly, Deep ph... |
OMIM:613320 |
Craniofacial Microsomia |
|
Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Hypoplasia of facial musculatu... |
OMIM:164210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Lissencephaly, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Gray matter heterot... |
OMIM:614643 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Gastroesophageal reflux, High palate, Microtia, Thin corpus callosum, Short philtrum, Frontal cor... |
OMIM:616977 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Advanced ossification of carpal bones, Anterior rib cupping, Short ribs, Narrow v... |
OMIM:269250 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, External ear malformation... |
ORPHA:1681 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Kyphosis, Microtia, Hypogonadism, Short philtrum, Severe sensorineural hearing impai... |
ORPHA:2983 |
Transaldolase Deficiency |
|
Anemia, Hydrops fetalis, Telangiectasia, Premature skin wrinkling, Atrial septal defect, Hepatosp... |
ORPHA:101028 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Flexion contracture, Micrognathia, Elbow flexion contracture, Hi... |
OMIM:210710 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Ventricular septal defect, Microtia, Cervical ribs, Short neck, Mic... |
OMIM:609654 |
Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Micrognathia, Butterfly vertebrae, Optic nerve hypoplasia, Median cleft lip, ... |
OMIM:301043 |
Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polyhydramnios, Micrognathia, Microdontia, Everted lower lip vermilion, Short ne... |
OMIM:613610 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Decreased testicular size, Cleft palate, Hearing impairment, Protruding ear |
ORPHA:85273 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Cyanosis, Optic atrophy, Micrognathia, Prominent antihelix, Abnorm... |
ORPHA:2886 |
Gm1 Gangliosidosis Type 1 |
|
Macrotia, Hydrops fetalis, Long philtrum, Beaking of vertebral bodies T12-L3, Diffuse white matte... |
ORPHA:79255 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Desquamation of skin soon after birth, Everted upper lip vermilion, Micrognathia,... |
OMIM:608013 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Cupped e... |
OMIM:156200 |
Tetrasomy 5P |
|
Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:3309 |
Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Cleft p... |
ORPHA:280 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate, Cupped ear |
ORPHA:93946 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Distal Monosomy 12Q |
|
Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contracture, Median cleft li... |
ORPHA:96149 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Microtia, Micrognathia, Duoden... |
ORPHA:2547 |
Down Syndrome |
|
Hypothyroidism, Atrioventricular canal defect, Conductive hearing impairment, Redundant neck skin... |
OMIM:190685 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Gray matter heterotopia, Conductive hearing impairment, Microtia, Lymphedema... |
ORPHA:314679 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... |
OMIM:616331 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Type II lissencephaly,... |
OMIM:236670 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Polyhydramnios, Mandibular prognathia, Microtia, Aganglionic megacolon, Hydrocepha... |
OMIM:613603 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Thickened ribs, Hydrops fetalis, Kyphosis, Death in infancy, Abnormal heart valve m... |
OMIM:230500 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Holoprosencephaly, Cleft palate, Optic disc coloboma, Posteriorly rot... |
OMIM:615948 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh... |
OMIM:141400 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Gastroesophageal reflux, Hydrops fetalis, Ventricular septal defect, Ky... |
ORPHA:79329 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Death in infancy, Simplified gyral... |
OMIM:618815 |
Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,... |
OMIM:615582 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Death in infancy, Jaundice, Nephrogenic diabetes insipidus, Arthrogryp... |
OMIM:613404 |
6Q16 Microdeletion Syndrome |
|
Retrognathia, Microtia, Micrognathia, Macrocephaly, Abnormal ear morphology, Low-set ears |
ORPHA:171829 |
Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... |
OMIM:246560 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Microtia, Microgna... |
ORPHA:246 |
Lymphatic Malformation 6 |
|
Hypothyroidism, Polyhydramnios, Micrognathia, Nonimmune hydrops fetalis, Pleural effusion, Genita... |
OMIM:616843 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Micrognathia, Osteochondritis dissecans, Microdontia, Camptodactyly, Elbow d... |
OMIM:224690 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Thrombocytopenia, Hearing impairme... |
OMIM:619981 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular sep... |
OMIM:214300 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Macrocephaly, Abnormality of the p... |
ORPHA:90308 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Increased head circumference, Pineal cyst, Thick corpus callosum, Left ventricular noncompaction,... |
OMIM:300967 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Long philtrum, Microtia, Bifid uvula, Macrocephaly, Everted lower lip vermilion, Downturned corne... |
OMIM:618089 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Micrognathia, Smooth philtru... |
OMIM:134780 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Polyhydramnios, Hydrops fetalis, Abnormal carpal morphology, Platyspondyly, Low-set e... |
ORPHA:85166 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Sensorineural hearing impairment, Skeletal muscle atrophy, Bone-marrow foam cell... |
OMIM:256550 |
Vacterl With Hydrocephalus |
|
Retrognathia, Polyhydramnios, Microtia, third degree, Anotia, Absence of the sacrum, Spina bifida... |
ORPHA:3412 |
Hennekam Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Delayed eruption of teeth, Pericardial ef... |
ORPHA:2136 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Long philtrum, Micrognathia, Cleft palate, Malar flattening, Gl... |
ORPHA:166100 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching, Microcephaly |
OMIM:107500 |
Pendred Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E... |
ORPHA:705 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Cleft pa... |
OMIM:248390 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am... |
ORPHA:98914 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Microtia |
OMIM:608393 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventricular hypertrophy, Ventricular sep... |
OMIM:612561 |
Coxoauricular Syndrome |
|
Hip dislocation, Hearing impairment, Microtia |
OMIM:122780 |
Peters Plus Syndrome |
|
Polyhydramnios, Conductive hearing impairment, Cerebral cortical atrophy, Optic atrophy, Abnormal... |
ORPHA:709 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Long philtrum, Natal tooth, Short ribs, Micrognathia, Synostosis... |
ORPHA:50945 |
Branchiooculofacial Syndrome |
|
Conductive hearing impairment, Premature graying of hair, Micrognathia, Elbow flexion contracture... |
OMIM:113620 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Cyanosis, Asplenia, H... |
OMIM:306955 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec... |
ORPHA:95715 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Horizontal ribs, Neonatal death, Wide anterior fontanel, Natal tooth, Microti... |
OMIM:617925 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Polyhydramnios, Hydrops fetalis, Long philtrum, Short ribs, Absent vertebral bod... |
OMIM:200610 |
Cousin Syndrome |
|
Wrist flexion contracture, Anterior rounding of vertebral bodies, Humeroradial synostosis, Microg... |
OMIM:260660 |
Congenital Disorder Of Deglycosylation 2 |
|
Cleft earlobe, Sacral dimple, Gray matter heterotopia, High palate, Microtia, Micrognathia, Thin ... |
OMIM:619775 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior, Agitation |
OMIM:309548 |
20Q11.2 Microduplication Syndrome |
|
Retrognathia, Sacral dimple, Limited elbow extension, Microtia, Thickened ears, Tented philtrum, ... |
ORPHA:363659 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Abnormality of the anus, Laryngeal stenosis, Subglottic stenosis, ... |
OMIM:219000 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Abnormal aortic ... |
ORPHA:1596 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Cyanotic episode, Primary microcephaly, Simplified gyral pattern, Micro... |
ORPHA:284417 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Ventricular septal defect, Microtia, Exaggerated cupid's bow, Bicuspid ... |
OMIM:618619 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick upper lip vermilion, Long philtrum, Wide mouth, Microtia, Thick lower lip vermilion, Cuboid... |
ORPHA:163654 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Abnormal cerebral white matter morphology, D... |
ORPHA:477774 |
17Q24.2 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Otosclerosis, Decreased response to growth hormone ... |
ORPHA:529962 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Vascular ring, Kyphosis, Thick corpus callos... |
OMIM:603387 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate, Micrognathia, Malar flattening |
OMIM:183700 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Jaundice, Macroglossia, Umbilical hernia, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditi... |
OMIM:212065 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Low-set ears, Ventricular septal defect, Bilateral cleft lip, Ankylo... |
OMIM:618021 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Gastroesophageal reflux, Postnatal macrocephaly, Periventricular white matter hyperintensities, M... |
OMIM:618158 |
Chromosome 18Q Deletion Syndrome |
|
Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Bifid uvula, Shor... |
OMIM:601808 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu... |
OMIM:300712 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Ventricular septal defect, Deep philtrum, Microtia, Esophageal atr... |
OMIM:610536 |
Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvul... |
OMIM:300166 |
1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Conductive hearing impai... |
ORPHA:1606 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Micrognathia, Persistence of hemoglobin F, Unilateral cr... |
OMIM:300946 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size,... |
ORPHA:335 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Decreased ... |
ORPHA:1263 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis, Humeroradial synostosis, Micrognathia, Anal atresia, Tracheoesophag... |
ORPHA:2879 |
Thyroid Hypoplasia |
|
Hypothyroidism, Jaundice, Macroglossia, Thyroid hypoplasia |
ORPHA:95720 |
Fontaine Progeroid Syndrome |
|
Conductive hearing impairment, Micrognathia, Microdontia, Reduced subcutaneous adipose tissue, Ev... |
OMIM:612289 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microtia, Widely spaced teeth, Microdontia, Heart murmur, Recurrent otitis media, Atrial septal d... |
ORPHA:2728 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Dow... |
OMIM:615162 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Hypoxemia, Dextrocard... |
ORPHA:2257 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Flexion contracture, Abnormality of neuronal migration, Micrognathia, Bifid uvula... |
ORPHA:2671 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Limited knee flexion/extension, Right bundle branch block, Limited elbow movement,... |
ORPHA:268 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Hydrocephalus |
OMIM:619470 |
Meier-Gorlin Syndrome 7 |
|
Breast aplasia, Heart block, Dislocated radial head, Cleft palate, Second degree atrioventricular... |
OMIM:617063 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Clef... |
ORPHA:2521 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Low... |
ORPHA:357175 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Agitation |
ORPHA:100973 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... |
ORPHA:94066 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Premature thelarche, Sclerotic cranial sutures, Ventricular septal... |
ORPHA:371428 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion con... |
OMIM:117650 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Gastroesophageal reflux, Patellar aplasia, Long philtrum, Microtia, Micrognathia, ... |
OMIM:613805 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pulmonary artery stenos... |
ORPHA:2712 |
Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites, Increased nuchal... |
ORPHA:295 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve s... |
OMIM:615415 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Microtia, Bipariet... |
ORPHA:1770 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Micrognathia, Scapular winging, Hearing impairment, Recurrent otitis media, Micr... |
OMIM:150230 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Hypoplasia of the thymus, Joint contracture of the hand, Micrognathia, Jau... |
OMIM:214110 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Microtia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Pericardial... |
OMIM:616006 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab... |
OMIM:128980 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, Gastroesophageal reflux, Stapes ankylosis, Long philtrum, Velopharyngeal insu... |
OMIM:614701 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Broad neck, Granulocytopenia, Microtia, Micrognathia, Bifid uvu... |
OMIM:606164 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Micrognathia, Short neck, Skeletal muscle hypertrophy, Flexion contrac... |
OMIM:255800 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Cog1-Cdg |
|
Broad neck, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Short neck, Posterior rib gap,... |
ORPHA:263508 |
Trisomy 20P |
|
Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Micrognathia, Abnormal auto... |
ORPHA:261318 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Radioulnar dislocation, High palate, Abnormality of the elbow, Micrognathia, Elbow flexion contra... |
ORPHA:93359 |
Chromosome 16P13.3 Duplication Syndrome |
|
Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Short neck, Smooth philtr... |
OMIM:613458 |
Esophageal Atresia |
|
Cyanosis, Polyhydramnios, Subglottic stenosis, Dysphagia, Cleft palate, Hearing impairment, Ventr... |
ORPHA:1199 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Optic atrophy, Death in infancy, Spina bifida, Micrognathia, Limb hypertonia, ... |
ORPHA:99742 |
Peters-Plus Syndrome |
|
Polyhydramnios, Broad neck, Short lingual frenulum, Micrognathia, Microtia, second degree, Short ... |
OMIM:261540 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Esophageal atresia, Death in i... |
OMIM:300514 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Microcephaly, Hepatomegaly, S... |
ORPHA:2204 |
Noonan Syndrome 7 |
|
Webbed neck, Dysphagia, Pulmonic stenosis, Impaired oropharyngeal swallow response, Macrocephaly,... |
OMIM:613706 |
Hydrolethalus |
|
Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Anencephaly, Arrhinencephaly, Hydroce... |
ORPHA:2189 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis, Short neck, T... |
ORPHA:124 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hypoplasia of the frontal lobes, Conductive hearing impairment, Hepatomegaly, Gingival overgrowth... |
ORPHA:99843 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Prominent crus of helix, Dilation of Virchow-Robin spaces, Hip dislocation, Atrial... |
ORPHA:261311 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Shoulder dislocation, Ventricular hypertrophy, Flexion contracture, Dela... |
OMIM:143095 |
Dubowitz Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Microgn... |
ORPHA:235 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Anemia, Conductive hearing impairment, Broad neck, Ventricular septal d... |
OMIM:613309 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Pseudobulbar paralysis, Supernumerary nipple, Tricuspid regurgitation, Patent foramen ovale, Abno... |
ORPHA:466791 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Thoracolumbar scoliosis, Microtia, Carpal bone hypoplasia, Premature rupture of membranes, Platys... |
OMIM:616723 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Conductive hearing impairment, Cerebral cortical atrophy, Microtia, thir... |
ORPHA:2753 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Microtia, Micrognathia, Short philtrum, Low-set ears, Cupped ear, Craniosynostosis, Posteriorly r... |
OMIM:619873 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Increased circulating T4 concentration, Increased circulating free T3, Graves ... |
ORPHA:525731 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ... |
OMIM:619534 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Splenomegaly, Peau d'orange, Ventricul... |
OMIM:614576 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber... |
OMIM:253700 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Subdural hemorrhage, Smooth philtrum, Dehydration, Thrombocytopenia, Pulmonary emb... |
ORPHA:79282 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypoplasia of the frontal lobes, Polyhydramnios, Cerebral cortical atrophy, Micrognathia, Hypertr... |
OMIM:115150 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, High palate, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, posteri... |
ORPHA:1035 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Ventricular hypertrophy, Stapes ankylosis, Conductive hearing impairment, Polyhydramnio... |
ORPHA:51608 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Sensorineural hearing impairment, Patellar hypoplasia, Long philtrum, Thick corpus ... |
ORPHA:464288 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric... |
OMIM:619462 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, High palate, Abnormality of masticatory muscl... |
ORPHA:98913 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Microtia, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Malar f... |
ORPHA:1788 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Polyhydramnios, Micrognathia, Hypoplastic facial bones, Hip disl... |
OMIM:216340 |
Meier-Gorlin Syndrome 6 |
|
Gastroesophageal reflux, Conductive hearing impairment, Decreased response to growth hormone stim... |
OMIM:616835 |
Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Cerebral cortical atrophy, Pericardial effusion, Camptodactyly, P... |
ORPHA:1272 |
Ohdo Syndrome, X-Linked |
|
High palate, Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Microdontia, Narrow mout... |
OMIM:300895 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Butterfly vertebrae, Optic nerve hypoplasia, Hypoplastic cervical vertebrae... |
ORPHA:79345 |
Proximal 16P11.2 Microduplication Syndrome |
|
Microtia, Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormal basal ganglia MRI s... |
ORPHA:370079 |
Cardiofaciocutaneous Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Biparietal narrowing, Hypertrophic cardiomyopathy, Shor... |
ORPHA:1340 |
Treacher Collins Syndrome 1 |
|
Hypoplasia of the pharynx, Conductive hearing impairment, Cleft soft palate, Wide mouth, Microtia... |
OMIM:154500 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defe... |
OMIM:612938 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
Ohdo Syndrome |
|
Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Crypto... |
OMIM:249620 |
Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Cleft palate, Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Anemia, Ventricular septal defect, Microtia, Heart ... |
ORPHA:163979 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Hepatomegaly, Abnormal cortical gyration, Esophageal atres... |
ORPHA:2538 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Monosomy 9P |
|
Abnormal antihelix morphology, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, A... |
ORPHA:261112 |
Indomethacin Embryofetopathy |
|
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... |
ORPHA:1909 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc... |
ORPHA:319487 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Ventricular septal defect,... |
OMIM:608572 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Hypogonadism, Submucous cl... |
ORPHA:178303 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Microtia, Downturned corners of mouth, Thin vermilion border, Low-set ears... |
OMIM:301025 |
Buratti-Harel Syndrome |
|
Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Microtia, Velopharyngeal ... |
OMIM:619314 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... |
ORPHA:87 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Atlantoaxial dislocati... |
OMIM:602535 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten... |
OMIM:600001 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Webbed neck, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Sub... |
OMIM:619227 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Lumbar scoliosis, Abnormal carpal morphology, Microtia, Microcephaly, Mad... |
OMIM:614851 |
Desmosterolosis |
|
Abnormality of neuronal migration, Micrognathia, Bifid uvula, Lissencephaly, Cleft palate, Spleno... |
ORPHA:35107 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Mental deterioration |
ORPHA:2382 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Short ribs, Anencephaly, Hydrocephalus, Cerebellar vermis hypopl... |
OMIM:616546 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Microtia, Increased incisura length, Mixed hearing impairment, Cleft palate, Overfolded helix |
OMIM:612290 |
Nager Syndrome |
|
Non-midline cleft lip, Wide mouth, Microtia, Micrognathia, Hypoplasia of the maxilla, Abnormal pa... |
ORPHA:245 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Polyhydramnios, Hydrops fetalis, Flaring of rib cage, Short ribs, Unossified ... |
OMIM:200600 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Hydrops fetalis, Death in infancy, Lymphedema, Prematurely aged appearance, Oli... |
ORPHA:1318 |
Feingold Syndrome 1 |
|
Polyhydramnios, Asplenia, Micrognathia, Everted lower lip vermilion, Hearing impairment, Posterio... |
OMIM:164280 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis, Primary microcephaly, Death in infancy |
OMIM:619340 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Retrognathia, High palate, Sensorineural hearing impairment, Low-set ea... |
ORPHA:52055 |
Pendred Syndrome |
|
Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis... |
OMIM:274600 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Knee flexion contracture, Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux... |
OMIM:618076 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Decreased circulati... |
ORPHA:226313 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Wide mouth, Microtia, Widely spaced teeth, Macrocephaly, Oligohydram... |
OMIM:619056 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti... |
ORPHA:217093 |
Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Webbed neck, Microtia, Micrognathia, H... |
ORPHA:254519 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Widely-spaced maxillary central incisors, Cryptorchidism,... |
OMIM:601349 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Tetraploidy |
|
Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal narrowing, Short philtrum, Microcephal... |
ORPHA:3305 |
Meacham Syndrome |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Single umbilical a... |
OMIM:608978 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Adrenal hypoplasia |
OMIM:613124 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphol... |
ORPHA:980 |
Tetrasomy 9P |
|
Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Lissencephaly, Pericarditis, Myosi... |
ORPHA:3310 |
Distal Monosomy 10Q |
|
Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of the inner ear, Spina... |
ORPHA:96148 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Atelosteogenesis, Type Ii |
|
Increased intervertebral space, Horizontal sacrum, Death in infancy, Micrognathia, Cervical kypho... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Abnormality of the knee, Genu valgum, Gastroesophageal reflux, Cleft soft palate,... |
ORPHA:93316 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Thyroid hemiagenesis, Sensorineural hearin... |
ORPHA:209905 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
ORPHA:3236 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc... |
ORPHA:97290 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Premature birth, Macrotia, Aqueductal stenosis, Abnormality of neuronal ... |
ORPHA:2065 |
Hardikar Syndrome |
|
Cleft soft palate, Hepatosplenomegaly, Celiac disease, Pulmonary artery stenosis, Hepatomegaly, H... |
OMIM:301068 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Microtia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, B... |
OMIM:613804 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Sensorineural hearing impairment, Long philtrum, Dysphagia, Short neck, Cryptorchidism, Hepatomeg... |
OMIM:618958 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Gastroesophageal reflux, Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic ste... |
ORPHA:2414 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Arteriovenous malformation, Sh... |
ORPHA:584 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Redundant neck skin, Neonatal death, ... |
OMIM:619003 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti... |
ORPHA:217085 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Cleft soft palate, Microtia, Micrognat... |
ORPHA:2282 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Thick upper lip vermilion, Flexion contracture, Long philtrum, Wide mouth, Microtia, Thick lower ... |
OMIM:611717 |
Trisomy 8Q |
|
Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Micrognathia, Abnormal oral f... |
ORPHA:1752 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood, Microcephaly |
OMIM:302000 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B... |
ORPHA:2554 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Ventricular hypertrophy, Conductive hearing impairment, Left ventricular diastolic dysf... |
ORPHA:740 |
You-Hoover-Fong Syndrome |
|
Vascular ring, Coarctation of aorta, Double aortic arch, Kyphoscoliosis, Microcephaly, Accessory ... |
OMIM:616954 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Conductive hearing impairment, Patellar dislocation, Talon cusp, Narrow palate, Ventricular septa... |
ORPHA:353281 |
Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Ovoid vertebral bodies, Hepatomegaly, Hearing impairment, Genu valgum, Ulnar devi... |
OMIM:253010 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis |
OMIM:236750 |
Schilbach-Rott Syndrome |
|
Microtia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly, Pos... |
OMIM:164220 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Long philtrum, Microtia, Camptodactyly, Breast hypoplasia, Thin upper lip vermilion, Narrow mouth... |
OMIM:601353 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Aortic rupture, Polyhydramnios, Conductive hearing impairment, Tricuspi... |
OMIM:614557 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Female hypogonadism, Enamel hypoplasia, Tympanosclerosis, Hypothyroidism, Atrophic gastritis, Dec... |
OMIM:240300 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognathia, Atlantoaxial disloca... |
ORPHA:536467 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck,... |
ORPHA:93267 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Long philtrum, Wide mouth, Microtia, Micrognathia, Oligodontia, Recurrent otitis media, Smooth ph... |
OMIM:602562 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Frontotemporal cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Hypertrophic ... |
ORPHA:391428 |
Alstrom Syndrome |
|
Gingivitis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth ho... |
OMIM:203800 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... |
OMIM:225250 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Proteus-Like Syndrome |
|
Splenomegaly, Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Macrocephaly, Ve... |
ORPHA:2969 |
Zttk Syndrome |
|
Flexion contracture, Optic atrophy, Bifid uvula, Cervical ribs, Intestinal atresia, Ventricular s... |
OMIM:617140 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm... |
OMIM:616749 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Delayed cranial suture closure, Hypothyroidism, Micrognathia, Microdontia, Smooth philtrum, Throm... |
OMIM:620005 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
Opitz Gbbb Syndrome |
|
Ectopic anus, Micrognathia, Thyroglossal cyst, Abnormal corpus callosum morphology, Dysphagia, Pr... |
ORPHA:2745 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Diabetes insipidus, Conductive hearing impairment, Sensorineural hearing impa... |
OMIM:618500 |
Maffucci Syndrome |
|
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Multiple ... |
ORPHA:163634 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrops fetalis, Sensorineural hearing impairment, Radioulnar synostosis, Hydrocele testi... |
OMIM:616738 |
Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Webbed neck, Microtia, Secundum atrial septal defect, Breast hypoplasia, Microcep... |
ORPHA:1439 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... |
ORPHA:562 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional lability, Im... |
ORPHA:98818 |
Fryns Syndrome |
|
Polyhydramnios, Broad neck, Camptodactyly, Short neck, Hypoplasia of the optic tract, Cleft palat... |
OMIM:229850 |
Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Patent ductus arteriosus, Macrotia, Anotia, Microtia, Micrognathia, Acetabular dysp... |
OMIM:616462 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... |
ORPHA:444013 |
Bronchopulmonary Dysplasia |
|
Premature birth, Hyperoxemia, Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
Monosomy 18P |
|
Abnormal antihelix morphology, Hypothyroidism, Macrotia, Webbed neck, Hypodontia, Micrognathia, S... |
ORPHA:1598 |
Oligomeganephronia |
|
Premature birth, Micrognathia, Secundum atrial septal defect, Hypertension, Congenital diaphragma... |
ORPHA:2260 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl... |
ORPHA:353277 |
Say Syndrome |
|
Cleft palate, Micrognathia, Macrotia |
OMIM:181180 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia, Ventricular septal defect, A... |
ORPHA:3405 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Aplasia/Hypopla... |
ORPHA:168486 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... |
OMIM:101200 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, Decreased... |
OMIM:603467 |
Stickler Syndrome, Type I |
|
Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Kyphosis,... |
OMIM:108300 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Optic atrophy, Hip osteoarthritis, Hepatomegaly, Papilledema, Ging... |
ORPHA:580 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Splenomegaly, Abnormalities of placenta or umbilical cord, Long philtrum, Villous... |
OMIM:222470 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Anemia, Webbed neck, Anotia, Microtia, Esophageal atresia, Micrognathia, Cere... |
OMIM:614083 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Sensorineural hearing impairment, Premature osteoarthritis, Platyspondyly,... |
OMIM:184840 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Hypersple... |
OMIM:616028 |
8P23.1 Microdeletion Syndrome |
|