Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... |
OMIM:615703 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Miscarriage, Insulin-resistant diabetes mellitus, Insulin resistance, Oligo... |
OMIM:613877 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... |
OMIM:612526 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... |
ORPHA:280356 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior |
OMIM:615541 |
Asherman Syndrome |
|
Metrorrhagia, Miscarriage, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Malar prominence, Micrognathia, Insulin-resistant diabetes mellitus, Hepati... |
ORPHA:436182 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Dental crowding, Micrognathia, Increased circulating free fatty acid level,... |
ORPHA:2457 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction |
OMIM:208550 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Diabetic ketoacidosis, Hepatic steato... |
OMIM:615238 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Unsteady gait, Dental malocclusion, Gait ataxia, High palate |
OMIM:618292 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Olig... |
ORPHA:79085 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
OMIM:309548 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... |
OMIM:613684 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dental crowding, Diabetes mell... |
OMIM:615381 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg... |
ORPHA:79083 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, D... |
OMIM:610883 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance,... |
ORPHA:528 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate |
OMIM:618010 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dysphagia, Dental malocclusion |
OMIM:608931 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Thick vermilion bord... |
ORPHA:100973 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal... |
ORPHA:2471 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resist... |
ORPHA:2348 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Gait at... |
ORPHA:363400 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Oligomen... |
OMIM:212840 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Chorea, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Increased LDL cholesterol conce... |
OMIM:277460 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,... |
OMIM:612444 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Oligomenorrhea, Hepatic ... |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin-r... |
ORPHA:435660 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia... |
ORPHA:166108 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m... |
ORPHA:61 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:66628 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Miscarriage, Amenorrhea |
ORPHA:99928 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Temple Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognath... |
OMIM:616222 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:179494 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia, Aggressive behavior, ... |
OMIM:618342 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circula... |
ORPHA:79240 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Premature ovarian insu... |
ORPHA:2959 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... |
OMIM:617092 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, El... |
ORPHA:264580 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Wide mouth, Short philtru... |
OMIM:619293 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Diastema, Malar flattening, Dental malocclusion, Micrognathia |
ORPHA:436245 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Attention deficit hyperactivi... |
OMIM:619149 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Muenke Syndrome |
|
Malar flattening, High palate, Attention deficit hyperactivity disorder, Dental malocclusion |
OMIM:602849 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Hypoalbuminemia |
OMIM:617575 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:203800 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Hand tremor, Distal sensory impairment, Gait disturbance, Hyperglycemia, Mildly e... |
OMIM:604484 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Hypercholesterolemia, A... |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti... |
OMIM:618825 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion... |
OMIM:123450 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Coloboma |
ORPHA:324416 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin... |
ORPHA:363444 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Short philtrum, Abnormal repetitive... |
OMIM:609425 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Immunodeficiency 109 With Lymphoproliferation |
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Splenomegaly, Hypertriglyceridemia, Recurrent sinusitis |
OMIM:620282 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Glycogen Storage Disease Iii |
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Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Hypoglycemia, Elevated cir... |
OMIM:232400 |
Intermediate Osteopetrosis |
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Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... |
ORPHA:210110 |
Acrootoocular Syndrome |
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Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... |
ORPHA:2088 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Delayed eruption of teeth, Waddling gait, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Macroorchidism, Dental malocclusion, Abnormal facial skeleton mo... |
ORPHA:562 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Smith-Magenis Syndrome |
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Mandibular prognathia, Tented upper lip vermilion, Hypertriglyceridemia, Delayed eruption of prim... |
ORPHA:819 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
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Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Myopathy, Myofibrillar, 8 |
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Dental malocclusion, High palate, Dysphagia, Micrognathia |
OMIM:617258 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... |
ORPHA:280365 |
Joubert Syndrome 15 |
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Coloboma, Exencephaly |
OMIM:614464 |
Papular Xanthoma |
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Hyperlipidemia |
ORPHA:158008 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
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Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactivity disorder |
OMIM:618906 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Restlessness, Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of ... |
ORPHA:251028 |
Seckel Syndrome 10 |
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Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglob... |
OMIM:617253 |
Momo Syndrome |
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Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Developmental And Epileptic Encephalopathy 107 |
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Abnormal repetitive mannerisms |
OMIM:620033 |
Hyperprolinemia, Type I |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Brunet-Wagner Neurodevelopmental Syndrome |
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Abnormal repetitive mannerisms, Self-injurious behavior, Thick vermilion border |
OMIM:619690 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... |
ORPHA:85321 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Amelogenesis Imperfecta, Type If |
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Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Bruxism, Abnormal repetitive... |
OMIM:618718 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesic... |
OMIM:619418 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Elevated circulating creat... |
ORPHA:329178 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Robinow Syndrome, Autosomal Dominant 2 |
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Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Fanconi Anemia, Complementation Group S |
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Macrodontia, Ataxia, Dental malocclusion, Narrow palate, Thick upper lip vermilion |
OMIM:617883 |
Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Seckel Syndrome 1 |
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Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Clef... |
OMIM:210600 |
Developmental And Epileptic Encephalopathy 58 |
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Abnormal repetitive mannerisms |
OMIM:617830 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Pycnodysostosis |
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Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Cherubism |
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Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Carious teeth, Hyperlipidemia, Irregular menstr... |
ORPHA:79259 |
Nance-Horan Syndrome |
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Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Tented upper lip vermilion, Macrodontia, Polyphagia, Self-injurious behavior, Ever... |
ORPHA:228402 |
N-Acetylaspartate Deficiency |
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Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Intellectual Disability, Buenos-Aires Type |
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Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate |
ORPHA:3079 |
Three M Syndrome 2 |
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Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Short Syndrome |
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Delayed eruption of teeth, Micrognathia, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:269880 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
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Mandibular prognathia, Self-injurious behavior, High palate, Retrognathia, Abnormal repetitive ma... |
OMIM:615637 |
Phelan-Mcdermid Syndrome |
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Micrognathia, Aggressive behavior, Tongue thrusting, Dental malocclusion, Bruxism, High palate, W... |
OMIM:606232 |
Trichorhinophalangeal Syndrome, Type I |
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Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Joubert Syndrome 16 |
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Encephalocele, Coloboma |
OMIM:614465 |
Zimmermann-Laband Syndrome |
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Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
Werner Syndrome |
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Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Thick vermilion borde... |
ORPHA:364028 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Myopathy, Centronuclear, X-Linked |
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Elevated hepatic transaminase, Cryptorchidism, High palate, Dental malocclusion |
OMIM:310400 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Hyperactivity, Micrognathia, Repetitive compulsive behavior, Short philtrum, Compulsive behaviors... |
ORPHA:352490 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Chylomicron Retention Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Imp... |
ORPHA:71 |
Temtamy Preaxial Brachydactyly Syndrome |
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Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent... |
OMIM:101800 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Larsen-Like Syndrome |
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Malar flattening, Dental malocclusion, Cleft palate |
OMIM:608545 |
Sclerosteosis 1 |
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Mandibular prognathia, Dental malocclusion, Irregular menstruation, Facial palsy secondary to cra... |
OMIM:269500 |
Momo Syndrome |
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Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... |
ORPHA:369 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... |
ORPHA:313892 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
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Notched primary central incisor |
OMIM:620062 |
Mohr-Tranebjaerg Syndrome |
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Abnormal posturing, Dysphagia |
OMIM:304700 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98855 |
Neutral Lipid Storage Disease With Ichthyosis |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
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Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Baker-Gordon Syndrome |
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Thin upper lip vermilion, Self-injurious behavior, Abnormal repetitive mannerisms, Smooth philtrum |
OMIM:618218 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Alazami Syndrome |
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Abnormal eating behavior, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth... |
ORPHA:319671 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ataxia, Cryptorchidism, Dental malocclusion, Downturned corners of mout... |
OMIM:616737 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Cleft upper lip, Gingival overgrowth, Hepatosplenomegaly... |
ORPHA:168569 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98853 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Hyperactivity, Micrognathia, Thick lower lip vermilion, Stereotypical h... |
OMIM:614104 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ... |
OMIM:616202 |
Galloway-Mowat Syndrome 6 |
|
Downturned corners of mouth, Wide mouth, High palate, Microdontia, Abnormal repetitive mannerisms... |
OMIM:618347 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:412 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Tics, Attention d... |
OMIM:617808 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Abnormality of the tongue, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cr... |
OMIM:216400 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... |
OMIM:603553 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Acute p... |
OMIM:269700 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Cr... |
OMIM:234100 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Hypertrigl... |
OMIM:608594 |
Harrod Syndrome |
|
Cryptorchidism, Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Everted upper lip vermilion, Wide mouth, High palate, Short philtrum, Abnormal repetitive mannerisms |
ORPHA:280763 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent... |
ORPHA:73223 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion |
OMIM:608940 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Micrognathia, Dia... |
ORPHA:96121 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Everted lower lip vermilion, Elevated circulating creatine kinase concentra... |
ORPHA:261476 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low... |
OMIM:611174 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Dental malo... |
OMIM:603457 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia |
OMIM:300867 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypoalbuminem... |
OMIM:618183 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Bruxism, Self-injurious behavi... |
OMIM:618004 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Open bite, Abnormality of the dentition, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Hypertriglyceridemia, Hypercholesterolemia, Decreased testicul... |
OMIM:610644 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Hypertriglyceridemia, Diabetes mellitus, Micrognathia, Impaired temperature sensation... |
ORPHA:536532 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Cockayne Syndrome |
|
Progressive gait ataxia, Intention tremor, Hepatomegaly, Abnormal dental morphology, Ataxia, Cryp... |
ORPHA:191 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Death in infancy, Elevated circulating creatine kinase concentration, Micrognathia, ... |
ORPHA:800 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Ataxia |
ORPHA:79476 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Ab... |
ORPHA:411986 |
Noonan Syndrome 4 |
|
Wide mouth, Cryptorchidism, Thick vermilion border, Dental malocclusion |
OMIM:610733 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:620292 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Martin-Probst Syndrome |
|
Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Chordee... |
OMIM:300519 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Aggressive behavior, Dysphagia, Self-inj... |
OMIM:617061 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Severe temper tantrums, Thick lower lip vermilion, Downt... |
OMIM:618027 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:615546 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Wide mouth, Thin upper lip vermilion, Abnormal repetitive mannerisms, Widely spaced teeth |
OMIM:619877 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Micrognathia, Hyperlipidemia, Insulin-resistant diabet... |
OMIM:608612 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms, Retrognathia, Widely spaced teeth |
OMIM:619092 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Microretrognathia, Self-injurious behavior, High palate, Abnormal repetiti... |
ORPHA:397612 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus |
ORPHA:141333 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Malar flattening, Abno... |
OMIM:600430 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Somatic sensory dysfunction, Hypertriglyceridemia, A... |
ORPHA:167 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... |
OMIM:613443 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Increased overbite |
OMIM:618504 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity disorder, Enamel h... |
OMIM:618205 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Micrognathia, Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion border, H... |
OMIM:300986 |
Xq28 (MECP2) duplication |
|
Malar flattening, Abnormal repetitive mannerisms, Dysphagia, Narrow mouth |
DECIPHER:45 |
Kleine-Levin Syndrome |
|
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... |
ORPHA:33543 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism |
ORPHA:561854 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing |
ORPHA:157941 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... |
ORPHA:444072 |
Christianson Syndrome |
|
Mandibular prognathia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Narrow palate, Conical incisor, Ol... |
OMIM:235510 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cleft palate, ... |
OMIM:616894 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... |
ORPHA:453504 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b... |
OMIM:610253 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... |
ORPHA:352665 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... |
ORPHA:90289 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Coloboma, Anterior basal encephalocele |
OMIM:136760 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cr... |
OMIM:133540 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormality of the dentition, Thin vermilion border, Abnormal... |
ORPHA:391307 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn... |
ORPHA:353281 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hig... |
OMIM:265000 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia, Menorrhagia, Gingival bleeding |
ORPHA:35909 |
Oliver Syndrome |
|
Mandibular prognathia, High palate, Short philtrum, Dental malocclusion |
ORPHA:2920 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Micrognathia |
OMIM:614857 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Micrognathia, Thick vermilion border, Abnormal temper tantrums, Abnormal repetitiv... |
ORPHA:530983 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Widely spaced teeth, Smooth philtrum, Bruxism |
OMIM:616351 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Self-injurious behavior, Thin vermilio... |
ORPHA:238750 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Open mouth, Short philtrum |
ORPHA:228384 |
Au-Kline Syndrome |
|
Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, Oligodontia, High p... |
OMIM:616580 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, D... |
OMIM:241080 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr... |
ORPHA:97360 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Bulimia, S... |
OMIM:300912 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Neuromuscular dysphagia |
ORPHA:466722 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Impulsivity, Aggressive behavior, Micrognathia, Self-injurious behavior, R... |
OMIM:618914 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Impulsivity, Micrognathia, Aggressive behavior, High, ... |
OMIM:619312 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Chorea, Dental malocclusion, Hepatitis |
ORPHA:1855 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Down... |
OMIM:307030 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival ov... |
OMIM:212066 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man... |
OMIM:614008 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, High palate, Short philtrum, Abnormal repetitive... |
ORPHA:3306 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Downtur... |
OMIM:618430 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Cleft palate, Irregularly spaced teeth, Short philtrum, Smooth philtrum |
ORPHA:289522 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, High palate, Attention deficit hype... |
OMIM:620242 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan... |
ORPHA:98908 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Micro... |
OMIM:619127 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow palate, High... |
OMIM:182212 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Head-banging, Wide... |
OMIM:619103 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia |
OMIM:619313 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... |
OMIM:101200 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Repetitive compulsive behavior, Bruxism, Dysphagia, High palate, Wide... |
OMIM:300260 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temp... |
ORPHA:449291 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:619802 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Premature ovarian insufficiency, Diabetes mellitus, Micrognathia, Insulin-r... |
ORPHA:79474 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms, Narrow mouth |
OMIM:619317 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur... |
ORPHA:476126 |
Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
OMIM:617695 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hyperlipidemia, Insulin-resistant diabetes mellitu... |
ORPHA:3464 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Abnormal repetitive mannerisms, Dysphagia, Micrognathia |
OMIM:617802 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Dysmetria, Gait ataxia, Dis... |
OMIM:606721 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Hypertriglyceridemia, Hypercalcemia, Microgn... |
ORPHA:369837 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Hypersplenis... |
ORPHA:77293 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Dysmetria, Microdontia,... |
ORPHA:904 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Downturned corners of mouth, High palate, Short philtrum, Open mouth, Obsess... |
OMIM:617796 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Macroglossia, Everted lower lip vermilion, Abn... |
ORPHA:261144 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Irreg... |
ORPHA:189427 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental malocclusion, Downturned corners of ... |
ORPHA:487796 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Trismus, Deep philtrum, Cryptorchidism, Dental malocclusion, Narrow palate, Wide mouth, High palate |
OMIM:227330 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Everted lower lip vermilion, High palate, S... |
OMIM:616579 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxi... |
OMIM:180849 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla |
OMIM:612731 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Cryptorchidism, Dental malocclusion, High palate, Narrow mo... |
OMIM:102500 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Aggressive behavior, Downturned corners of mouth, Short philtrum, Atten... |
OMIM:619121 |
22Q11.2 Duplication Syndrome |
|
Micrognathia, Cleft palate, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnor... |
ORPHA:1727 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Micrognathia, Carious teeth, Abnormal f... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Micrognathia, Carious teeth, Abnormal f... |
ORPHA:353277 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig... |
OMIM:249420 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum... |
ORPHA:435638 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Joubert Syndrome 14 |
|
Encephalocele, Coloboma, Hydrocephalus, Meningocele |
OMIM:614424 |
Monosomy 22Q13.3 |
|
Hyperactivity, Dental crowding, Hair-pulling, Dental malocclusion, Bruxism, Malar flattening |
ORPHA:48652 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Narrow palate, Wide mouth, Thick vermilion border, High palate,... |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-... |
OMIM:616393 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, High palate, Short philtrum, Attention deficit hyperactivity disorder, A... |
OMIM:618354 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Dental crowding, Impaired glucose tolerance, Micrognathia, Hyperlipidem... |
OMIM:248370 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hyperproteinemia, Increased circulating re... |
ORPHA:90041 |
Chromosome 5P13 Duplication Syndrome |
|
Downturned corners of mouth, Self-injurious behavior, High palate, Short philtrum, Compulsive beh... |
OMIM:613174 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Somatic sensory dysfunction, Ataxia, Abno... |
ORPHA:666 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Abnormal posturing, Dysphagia |
ORPHA:225147 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Stereotypical hand wringing, Dysphagia, Widely spaced t... |
OMIM:619229 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion |
OMIM:259730 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, High palate, Self-mutilation |
ORPHA:457240 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Dysphagia |
OMIM:128100 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Short philtrum, Abnormal repetiti... |
OMIM:300486 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Insulin resistance, Hy... |
ORPHA:199276 |
White-Sutton Syndrome |
|
Mandibular prognathia, Hyperactivity, Micrognathia, Aggressive behavior, Cleft palate, Downturned... |
OMIM:616364 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Gingival overgrowth, Smooth philtrum, Long philtrum |
OMIM:619428 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Micrognathia, Carious teeth, Alveolar ridge overgrowth, Cleft palate, M... |
ORPHA:177907 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Open mouth, Abnormal repetitive mannerisms |
OMIM:617751 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Micrognathia, Aggressive behavior, Thin vermilion border, Short philtrum, Long phi... |
OMIM:619695 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Cleft palate, Dysph... |
OMIM:242840 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Abnormal rep... |
OMIM:615802 |
Chromosome 15Q11.2 Deletion Syndrome |
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Irregular dentition, Micrognathia, Cleft palate, Compulsive behaviors, Attention deficit hyperact... |
OMIM:615656 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Tangier Disease |
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Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia |
ORPHA:31150 |
19P13.12 Microdeletion Syndrome |
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Cryptorchidism, Hyperlipidemia, Cleft palate, Thin vermilion border, Hypodontia, Long philtrum, H... |
ORPHA:254346 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Thin upper lip vermilion, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Ataxi... |
ORPHA:3455 |
Wiedemann-Rautenstrauch Syndrome |
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Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypop... |
OMIM:264090 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate... |
OMIM:303600 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Tented upper lip vermilion, Abnormal repetitive mannerisms |
OMIM:617807 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228308 |
Bainbridge-Ropers Syndrome |
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Thin upper lip vermilion, Dental crowding, Micrognathia, Gingival overgrowth, Recurrent hand flap... |
OMIM:615485 |
Griscelli Syndrome Type 2 |
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Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
W Syndrome |
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Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Open mouth, Abnormal repetitive mannerisms |
ORPHA:500159 |
Megalocornea-Intellectual Disability Syndrome |
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Micrognathia, Everted lower lip vermilion, High palate, Short philtrum, Open mouth, Abnormal repe... |
ORPHA:2479 |
Noonan Syndrome 1 |
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Male infertility, Micrognathia, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft p... |
OMIM:163950 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Alagille Syndrome 1 |
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Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... |
OMIM:118450 |
Hijazi-Reis Syndrome |
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Abnormal repetitive mannerisms |
OMIM:301094 |
Hydroxykynureninuria |
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Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Phakomatosis Pigmentokeratotica |
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Coloboma, Spina bifida |
ORPHA:2874 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Abnormality of the dentition, Micrognathia, Hyperlipidemia, Insulin resistance, Narro... |
ORPHA:90154 |
Arboleda-Tham Syndrome |
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Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Dysphagia, Down... |
OMIM:616268 |
White-Sutton Syndrome |
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Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Downturned corners of mouth, Self-i... |
ORPHA:468678 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Diastema, Thick lower lip vermi... |
OMIM:301040 |
Congenital Analbuminemia |
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Miscarriage, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Micrognathia |
OMIM:620073 |
Carpenter Syndrome 2 |
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Carious teeth, High, narrow palate, Bilateral cryptorchidism, Cryptorchidism, Dental malocclusion... |
OMIM:614976 |
Kinsship Syndrome |
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Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Abnormal repetitive mannerisms, Th... |
OMIM:619297 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Cerebral Creatine Deficiency Syndrome 1 |
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Mandibular prognathia, Aggressive behavior, Attention deficit hyperactivity disorder, Malar flatt... |
OMIM:300352 |
Alström Syndrome |
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Abnormality of dental color, Hypoplasia of the Leydig cells, Gingivitis, Hepatic fibrosis, Hepati... |
ORPHA:64 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Hypercalcemia, Portal hypertension, Thick lower lip vermilion, Dental malocclu... |
OMIM:194050 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Hyp... |
OMIM:232220 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Fraser Syndrome |
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Death in infancy, Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacia... |
ORPHA:2052 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Fraser Syndrome 1 |
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Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Difficulty i... |
OMIM:219000 |
Solitary Median Maxillary Central Incisor |
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Coloboma, Cyclopia, Holoprosencephaly |
OMIM:147250 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, High palate, Abnormal... |
ORPHA:457279 |
Ctcf-Related Neurodevelopmental Disorder |
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Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor... |
ORPHA:363611 |
Helsmoortel-Van Der Aa Syndrome |
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High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Ol... |
OMIM:305600 |
Sandifer Syndrome |
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Abnormal posturing |
ORPHA:71272 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Mandibular prognathia, Exaggerated median tongue furrow, Hepatomegaly, Cryptorchidism, Submucous ... |
OMIM:312870 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Doors Syndrome |
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Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
2Q37 Microdeletion Syndrome |
|
Downturned corners of mouth, Thin vermilion border, Attention deficit hyperactivity disorder, Com... |
ORPHA:1001 |
Proximal 16P11.2 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Cleft palate, Micrognathia |
ORPHA:261197 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C... |
ORPHA:534 |
Pitt-Hopkins Syndrome |
|
Deep philtrum, Wide mouth, Self-injurious behavior, Short philtrum, Widely spaced teeth, Open mou... |
OMIM:610954 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Dental crowding, Micrognathia, High palate, Thick vermilion border, Attention deficit hyperactivi... |
OMIM:619005 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Gingival overgrowth, High palate, Dy... |
OMIM:619777 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, High palate, Abnormality of the dentition |
ORPHA:90153 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Hyperactivity, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Self-i... |
OMIM:619512 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Retrognathia, Abnormal repetitive mannerisms |
ORPHA:457351 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Widely spaced teeth, Dysphagia, Micrognathia |
ORPHA:496641 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Head-banging, Self-injurious behavior, Short philtrum, Attention deficit hyp... |
OMIM:619575 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatoblastoma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hy... |
OMIM:232240 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms, High palate, Micrognathia |
ORPHA:300570 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short philtrum, High palate, Tics, Compulsive behaviors, Abnormal repetitive... |
OMIM:619475 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Repetitive compulsive behavior, Abnormality of the gin... |
ORPHA:513456 |
Rett Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Repetitive compulsive behavior, Self-biting, Abnormal repetitive manner... |
ORPHA:522077 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Downturned corners of mouth, Wide mouth, Attention deficit hyperactivity disorder, R... |
OMIM:301030 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Agenesis of i... |
OMIM:619841 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Cleft lip, Cleft palate, Everted lower lip vermilion, Thick vermilion border... |
OMIM:301066 |
Developmental And Epileptic Encephalopathy 2 |
|
Thick lower lip vermilion, Abnormal repetitive mannerisms |
OMIM:300672 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Dysphagia, High palate, Long philtr... |
ORPHA:319182 |
Loeys-Dietz Syndrome 3 |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Dental crowding, Cleft palate, Downturned corners of mouth, Widely spac... |
OMIM:301044 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Narrow mouth, Gingival overgrowth, Long philtrum, Open mouth, Abnormal repetitive m... |
ORPHA:508533 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Nail-biting, Aggressive behavior, Hair-pulling, ... |
OMIM:620330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hyperactivity, Micrognathia, Narrow mouth, Thick lower lip vermilion, W... |
OMIM:309590 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Self-injurious behavior, Narrow mouth, Retrognathia, Abnormal repetitive manne... |
ORPHA:468631 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Temporomandibular joint ankylosis, Gingival over... |
ORPHA:580 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Thin upper lip vermilion, Abnormal repetitive mannerisms, Deep philtrum, Thick lower lip vermilio... |
OMIM:617330 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Micrognathia, Aggressive behavior, Thick lower lip vermilion, Downturned corners o... |
OMIM:614756 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Self-in... |
OMIM:612474 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Micrognathia, Long philtrum, ... |
ORPHA:508498 |
Ogden Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Abnormali... |
OMIM:300855 |
Bloom Syndrome |
|
Malar flattening, Agenesis of maxillary lateral incisor |
OMIM:210900 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, High palate, Smooth philtrum |
OMIM:618653 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Impaired pain sensation, Hyperlipidemia, Hyperkalemi... |
ORPHA:293987 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Short upper lip, Downturned corners... |
OMIM:194190 |
Primrose Syndrome |
|
Restlessness, Aggressive behavior, Hypoplasia of the maxilla, Abnormal repetitive mannerisms, Thi... |
OMIM:259050 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:464306 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Carious teeth, Downturned corners of mouth, Thick vermilion border, High palate, Attention defici... |
OMIM:619522 |
1P36 Deletion Syndrome |
|
Narrow mouth, Polyphagia, Dysphagia, Self-injurious behavior, Long philtrum, Abnormal repetitive ... |
ORPHA:1606 |
Lowe Oculocerebrorenal Syndrome |
|
Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Abnormal re... |
OMIM:619325 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:2152 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Abnormal repetitive mannerisms, Hypoplastic philtrum |
OMIM:616682 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Median cleft lip and palate, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Decreased ... |
ORPHA:95494 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Orofacial cleft, Agen... |
OMIM:309800 |
Norrie Disease |
|
Self-injurious behavior, Thin vermilion border, Attention deficit hyperactivity disorder, Malar f... |
ORPHA:649 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |