Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box A2
Synonyms:
Tcf-3b,  HNF3-beta,  HNF3beta,  Hnf-3b,  Tcf3b,  Hnf3b

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxa2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Foxa2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft lip and palate, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Decreased ... ORPHA:95494

The table below shows human diseases predicted to be associated to Foxa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia, Recurrent sinusitis OMIM:620282
Oculodentodigital Dysplasia, Autosomal Recessive
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
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Hypoglycemia, Elevated cir... OMIM:232400
Intermediate Osteopetrosis
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... ORPHA:210110
Acrootoocular Syndrome
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... ORPHA:2980
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... ORPHA:2088
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Waddling gait, Dental malocclusion, High palate, Hypodontia, Bifid uvula OMIM:612350
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Dental malocclusion, Abnormal facial skeleton mo... ORPHA:562
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Hypertriglyceridemia, Delayed eruption of prim... ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Dysphagia, Micrognathia OMIM:617258
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... ORPHA:280365
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactivity disorder OMIM:618906
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of ... ORPHA:251028
Seckel Syndrome 10
Microretrognathia, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglob... OMIM:617253
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Thick vermilion border OMIM:619690
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... ORPHA:85321
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... OMIM:618620
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Downturned corners of mouth, Self-injurious behavior, Bruxism, Abnormal repetitive... OMIM:618718
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesic... OMIM:619418
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Elevated circulating creat... ORPHA:329178
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... OMIM:616331
Fanconi Anemia, Complementation Group S
Macrodontia, Ataxia, Dental malocclusion, Narrow palate, Thick upper lip vermilion OMIM:617883
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Seckel Syndrome 1
Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Clef... OMIM:210600
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Carious teeth, Hyperlipidemia, Irregular menstr... ORPHA:79259
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
2Q23.1 Microdeletion Syndrome
Hyperactivity, Tented upper lip vermilion, Macrodontia, Polyphagia, Self-injurious behavior, Ever... ORPHA:228402
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate ORPHA:3079
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Short Syndrome
Delayed eruption of teeth, Micrognathia, Insulin resistance, Insulin-resistant diabetes mellitus,... OMIM:269880
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Self-injurious behavior, High palate, Retrognathia, Abnormal repetitive ma... OMIM:615637
Phelan-Mcdermid Syndrome
Micrognathia, Aggressive behavior, Tongue thrusting, Dental malocclusion, Bruxism, High palate, W... OMIM:606232
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Zimmermann-Laband Syndrome
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... ORPHA:3473
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Thick vermilion borde... ORPHA:364028
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Cryptorchidism, High palate, Dental malocclusion OMIM:310400
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Micrognathia, Repetitive compulsive behavior, Short philtrum, Compulsive behaviors... ORPHA:352490
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Imp... ORPHA:71
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent... OMIM:101800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Larsen-Like Syndrome
Malar flattening, Dental malocclusion, Cleft palate OMIM:608545
Sclerosteosis 1
Mandibular prognathia, Dental malocclusion, Irregular menstruation, Facial palsy secondary to cra... OMIM:269500
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... ORPHA:2563
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... ORPHA:369
Taurodontism
Taurodontia OMIM:272700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Developmental And Speech Delay Due To Sox5 Deficiency
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
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
Notched primary central incisor OMIM:620062
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... ORPHA:98855
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Micrognathia OMIM:608257
Baker-Gordon Syndrome
Thin upper lip vermilion, Self-injurious behavior, Abnormal repetitive mannerisms, Smooth philtrum OMIM:618218
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
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
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
Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Abnormal rep... OMIM:615802
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Micrognathia, Cleft palate, Compulsive behaviors, Attention deficit hyperact... OMIM:615656
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia ORPHA:31150
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hyperlipidemia, Cleft palate, Thin vermilion border, Hypodontia, Long philtrum, H... ORPHA:254346
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Ataxi... ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypop... OMIM:264090
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Coffin-Lowry Syndrome
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
Tented upper lip vermilion, Abnormal repetitive mannerisms OMIM:617807
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Micrognathia, Gingival overgrowth, Recurrent hand flap... OMIM:615485
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
W Syndrome
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
Open mouth, Abnormal repetitive mannerisms ORPHA:500159
Megalocornea-Intellectual Disability Syndrome
Micrognathia, Everted lower lip vermilion, High palate, Short philtrum, Open mouth, Abnormal repe... ORPHA:2479
Noonan Syndrome 1
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
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Hydroxykynureninuria
Stomatitis, Abnormal repetitive mannerisms ORPHA:79155
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormality of the dentition, Micrognathia, Hyperlipidemia, Insulin resistance, Narro... ORPHA:90154
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Dysphagia, Down... OMIM:616268
White-Sutton Syndrome
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Downturned corners of mouth, Self-i... ORPHA:468678
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Diastema, Thick lower lip vermi... OMIM:301040
Congenital Analbuminemia