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Gene: Foxa2 MGI:1347476

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Foxa2 (1 diseases)
Human diseases predicted to be associated with Foxa2 (611 diseases)

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	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	Miscarriage, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp...	ORPHA:86816
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Micrognathia	OMIM:620073
Carpenter Syndrome 2	Carious teeth, High, narrow palate, Bilateral cryptorchidism, Cryptorchidism, Dental malocclusion...	OMIM:614976
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Abnormal repetitive mannerisms, Th...	OMIM:619297
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Aggressive behavior, Attention deficit hyperactivity disorder, Malar flatt...	OMIM:300352
Alström Syndrome	Abnormality of dental color, Hypoplasia of the Leydig cells, Gingivitis, Hepatic fibrosis, Hepati...	ORPHA:64
Williams-Beuren Syndrome	Diabetes mellitus, Hypercalcemia, Portal hypertension, Thick lower lip vermilion, Dental malocclu...	OMIM:194050
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Splenomegaly, Hyp...	OMIM:232220
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Fraser Syndrome	Death in infancy, Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacia...	ORPHA:2052
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric...	OMIM:232200
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Fraser Syndrome 1	Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Difficulty i...	OMIM:219000
Solitary Median Maxillary Central Incisor	Coloboma, Cyclopia, Holoprosencephaly	OMIM:147250
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, High palate, Abnormal...	ORPHA:457279
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor...	ORPHA:363611
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance...	OMIM:615873
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Ol...	OMIM:305600
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Hepatomegaly, Cryptorchidism, Submucous ...	OMIM:312870
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Late Infantile Neuronal Ceroid Lipofuscinosis	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	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	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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxa2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxa2.

No publications found that use IMPC mice or data for Foxa2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Foxa2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Foxa2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Foxa2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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