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
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Hypoglycemia, Median cleft lip and palate ORPHA:95494

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Oligospermia, De... OMIM:615703
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Lipodystrophy, Familial Partial, Type 4
Miscarriage, Oligomenorrhea, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin r... OMIM:613877
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Hy... ORPHA:280356
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Asherman Syndrome
Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua... ORPHA:137686
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Oligomenorrhea, Primary amenorrhea, Mater... OMIM:604367
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hemifacial Atrophy, Progressive
Dental malocclusion, Ataxia, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Difficult... OMIM:610717
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Micrognathia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Malar prominence, Hepati... ORPHA:436182
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... OMIM:613684
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hepatomegaly, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Mandibuloacral Dysplasia
High palate, Glucose intolerance, Abnormal tongue morphology, Hyperinsulinemia, Dental crowding, ... ORPHA:2457
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Mandibular prognathia, Dental malocclusion, Gait ataxia OMIM:618292
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Ataxia, High, narrow palate OMIM:619692
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Insulin-resistant diabetes me... ORPHA:79085
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction OMIM:208550
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Incre... OMIM:616516
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Hypertrig... OMIM:615238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Dental malocclusion OMIM:615541
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Narrow mouth, Hepatomegaly, Micrognathia, Hypertriglyceridemia, Elevated hepatic... OMIM:615381
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Congenital Generalized Lipodystrophy
Amenorrhea, Hyperinsulinemia, Hepatomegaly, Macroglossia, Increased C-peptide level, Cirrhosis, O... ORPHA:528
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Primary amenor... ORPHA:79083
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Oligomenorrhea, Hypertriglyceridemia, Insulin-resista... ORPHA:435651
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia... ORPHA:71212
Temple Syndrome
High palate, Cleft palate, Maturity-onset diabetes of the young, Micrognathia, Short philtrum, Bi... OMIM:616222
Placental Site Trophoblastic Tumor
Amenorrhea, Miscarriage, Metrorrhagia ORPHA:99928
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Oligomenorrhea,... ORPHA:435660
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Tremor, Hypertriglyceridemia, Gait ataxia, Lim... ORPHA:363400
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Abnormal palate morphology, Mandibu... ORPHA:2471
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Advanced eruption of teeth, Hypertriglyce... ORPHA:2348
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Chorea, Increased circulating free fatty acid level ORPHA:941
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Poor fine motor coordination, Malar flattening, Micrognathia, Diastema, Inco... ORPHA:436245
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Ataxia, Macrodontia of permanent maxillary central incisor, Macr... OMIM:618729
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Ataxia With Vitamin E Deficiency
Ataxia, Progressive cerebellar ataxia, Dysmetria, Increased LDL cholesterol concentration, Dysdia... OMIM:277460
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Spastic gait, Carious teeth, Mandibular prognathia,... OMIM:249630
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Hepatomegaly, Narrow palate,... ORPHA:61
Craniosynostosis 3
Dental malocclusion OMIM:615314
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Potocki-Lupski Syndrome
High palate, Wide mouth, Dental malocclusion, Motor stereotypy, Micrognathia, Dental crowding, Ma... OMIM:610883
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hy... ORPHA:66628
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Incisor ... OMIM:619719
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Conical mandibular incisor, Oligodontia, Discolored lateral incisors, Widely-spaced incisors OMIM:601668
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Long upper lip, Stereotypical body rocking, Poor coordination, Thick ver... OMIM:309548
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Oligomenorrhea, Irregular menstruation, Elev... ORPHA:370
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Carious teeth, Pr... OMIM:613680
Dystonia 31
Parkinsonism, Abnormal posturing OMIM:619565
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Hy... ORPHA:179494
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Irregular menstruation... ORPHA:79240
Filippi Syndrome
Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated incisors, Abnormality of... OMIM:272440
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Odontotrichoungual-Digital-Palmar Syndrome
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth OMIM:601957
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Neoplasm of the pancreas, Dental malocclusion, Selective tooth agenesis, Fragil... ORPHA:2959
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia OMIM:617885
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Tricho-Dento-Osseous Syndrome
Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio... ORPHA:3352
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Irregular menstruation, Oligomenorrhea, Elev... ORPHA:264580
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Nephrotic Syndrome, Type 14
Ataxia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... OMIM:613027
Atkin-Flaitz Syndrome
Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... ORPHA:1193
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Mulibrey Nanism
Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,... OMIM:253250
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Tented upper lip vermilion, In... ORPHA:166108
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Motor stereotypy, Persistence of primary teeth, Hypodontia... OMIM:618342
Fraxe Intellectual Disability
Thick vermilion border, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Hypobetalipoproteinemia, Familial, 1
Ataxia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate amin... OMIM:615558
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Abnormal respiratory motile cilium morphology, Chronic rhinitis, C... OMIM:242680
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Micrognathia, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... ORPHA:1327
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements, Thin up... OMIM:618218
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... ORPHA:157941
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis OMIM:617092
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... OMIM:603463
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Dental malocclusion, Wide mouth, Short philtrum, Microdontia, Enamel hypoplasia... OMIM:619293
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Recurrent hand flapping, Poor coordination, Deep philtrum, Widely spac... OMIM:619717
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Malar flattening, Retrognathia, Speech apraxia, Open mouth OMIM:613670
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Abnorma... OMIM:203800
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... OMIM:242670
Intermediate Osteopetrosis
Dental malocclusion, Abnormality of the dentition, Abnormality of dental morphology, Osteoscleros... ORPHA:210110
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormality of the d... OMIM:182290
Mcdonough Syndrome
Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular prognathia OMIM:248950
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated c... ORPHA:26793
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Downturned corners of mouth OMIM:307030
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Death in infancy, Increased circulating free fatty acid level OMIM:610768
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Coloboma ORPHA:324416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Recurrent sinusit... OMIM:613101
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Retrognathia, Abnor... ORPHA:363444
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Bifid uvula, Hamarto... ORPHA:137888
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Hepatic failure, Increased hepatic gl... ORPHA:2088
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Retrognathia, Myoclonus, Widely spaced teeth, Tremor, Gait ... OMIM:619092
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Malar flattening, Thin vermilion border, Elevated circulating creat... OMIM:232400
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300602
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Delayed eruption of teeth, Bifid uvula, Waddling gait OMIM:612350
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Mandibular prognat... ORPHA:3079
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Severe Intellectual Disability And Progressive Spastic Paraplegia
High palate, Wide mouth, Motor stereotypy, Short philtrum, Babinski sign, Spastic dysarthria, Pro... ORPHA:280763
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Micrognathia, Decreased HDL cholesterol c... ORPHA:280365
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ... OMIM:300431
Muenke Syndrome
High palate, Dental malocclusion, Malar flattening OMIM:602849
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Open mouth, Micrognathia, Short philtrum, Gait distur... ORPHA:819
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Macrodontia OMIM:617883
Short Syndrome
Glucose intolerance, Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Do... OMIM:269880
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Abnormal posturing OMIM:304700
Pycnodysostosis
High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon... ORPHA:763
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathi... OMIM:616331
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Lessel-Kreienkamp Syndrome
Dental malocclusion, Thin upper lip vermilion, Open mouth OMIM:619149
Myopathy, Myofibrillar, 8
High palate, Micrognathia, Dental malocclusion, Frequent falls OMIM:617258
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Smooth p... OMIM:157980
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Bradykinesia, Retrognathia, Intention tremor,... ORPHA:466722
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hand tremor, Distal sensory impairment, Gait disturbance, Mildly elevated creatin... OMIM:604484
Mccune-Albright Syndrome
Dental malocclusion, Hypophosphatemia, Pancreatitis, Abnormal facial skeleton morphology, Increas... ORPHA:562
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Short philtrum, Thin upper lip vermilion, Gait ataxia OMIM:609425
Developmental And Epileptic Encephalopathy 87
High palate, Wide mouth, Hypertonia, U-Shaped upper lip vermilion, Recurrent hand flapping, Widel... OMIM:618916
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti... ORPHA:363417
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Hepatomegaly, Micrognathia, Elevated circulating creatine kinas... ORPHA:329178
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
High palate, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microves... OMIM:619418
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity OMIM:617820
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Seckel Syndrome 10
Glucose intolerance, Microretrognathia, Elevated hemoglobin A1c, Glycosuria, Elevated circulating... OMIM:617253
Cri-Du-Chat Syndrome
High palate, Hypertonia, Motor stereotypy, Microretrognathia, Short philtrum, Anterior open-bite ... OMIM:123450
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Supernumerary tooth, High, narrow palate, Micrognathia, Delayed e... ORPHA:2980
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Narrow mouth, Retrognathia, Micrognathia, Short philtrum, Cerebral ... ORPHA:352490
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Ir... ORPHA:79259
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Long philtrum, Delayed eruption of teeth, Thi... OMIM:612921
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Increased LD... OMIM:267700
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Oligodontia, Jaw swelling, Multipl... OMIM:118400
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
High palate, Recurrent hand flapping, Malar flattening, Cleft palate, Open mouth OMIM:620021
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi... ORPHA:3473
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Sclerosteosis 1
Dental malocclusion, Tooth malposition, Malar flattening, Irregular menstruation, Facial palsy se... OMIM:269500
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro... OMIM:190350
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Brunet-Wagner Neurodevelopmental Syndrome
Thick vermilion border, Motor stereotypy OMIM:619690
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Dental malocclusion, Narrow mouth, Hypertonia, Cleft palate, Abnormality of the dent... ORPHA:251028
Werner Syndrome
Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase concentration, Hypertrig... OMIM:277700
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattening, Short philtr... ORPHA:364028
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Long philtrum, Anterior open-bite malocclusion, Dental ... OMIM:617877
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Widely spaced teeth, Spastic ataxia OMIM:618906
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Hypodontia, Irregular menstruation, Delayed eruption of teeth, Hypoplasia of... OMIM:101800
Momo Syndrome
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Motor stereotypy, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Hypertrig... ORPHA:209902
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Taurodontism
Taurodontia OMIM:272700
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Hepatomegaly, Micronodular cirrhosis, Eclabion, Abnormal circulating creatine kinase conc... ORPHA:98907
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Cleft palate OMIM:608545
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy OMIM:619470
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Downturned corners of mouth, Deep philtrum, Recurrent hand flapping, Spasticity OMIM:618859
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Narrow mouth, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis OMIM:619317
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Cariou... ORPHA:10
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98855
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Opisthotonus, Frequent falls, Spasticity, Abnormal posturing ORPHA:216866
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Phelan-Mcdermid Syndrome
High palate, Dental malocclusion, Motor stereotypy, Malar flattening, Micrognathia, Long philtrum... OMIM:606232
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Hemiparesis, Downturned corners of... ORPHA:2409
Syngap1-Related Developmental And Epileptic Encephalopathy
High palate, Wide mouth, Narrow mouth, Ataxia, Recurrent hand flapping, Poor coordination, Thin v... ORPHA:544254
Primary Lipodystrophy
Hyperlipidemia, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhagi... ORPHA:90970
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Dental crowding,... OMIM:210600
H Syndrome
Amenorrhea, Cleft upper lip, Gingival overgrowth, Hepatosplenomegaly, Hypertriglyceridemia, Diabe... ORPHA:168569
Snijders Blok-Campeau Syndrome
Motor stereotypy, Abnormality of the dentition, Speech apraxia, High, narrow palate OMIM:618205
Intellectual Developmental Disorder, Autosomal Recessive 41
High palate, Mandibular prognathia, Retrognathia, Motor stereotypy OMIM:615637
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre... ORPHA:79086
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Tremor, Motor stereotypy, Spasticity OMIM:618718
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Short philtrum, Tented upper lip vermilion, Tetraparesis ORPHA:85277
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98863
Lipodystrophy, Congenital Generalized, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated hemoglobin A1c,... OMIM:269700
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Tip-toe gait, Elevated circulating creatine kinase conce... ORPHA:98853
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased fertility in females, Insulin-... OMIM:608594
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Abnormal spaced incisors, Everted lower lip vermilion, Short philtrum, Myoclonu... ORPHA:411986
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion OMIM:310400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Anterior encephalocele, Holoprosencephaly OMIM:601357
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia OMIM:263540
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Cockayne Syndrome A
Dental malocclusion, Ataxia, Hepatomegaly, Splenomegaly, Irregular menstruation, Carious teeth, G... OMIM:216400
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate OMIM:601095
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Coffin-Siris Syndrome 6
Motor stereotypy, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Short philtrum, ... OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Micrognathia, Stereotypical hand wringing, Incoordination, Thin upper l... OMIM:614104
Cdkl5-Deficiency Disorder
Thick vermilion border, Deep philtrum, Stereotypical hand wringing, Everted lower lip vermilion ORPHA:505652
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Wide mouth, Hypertonia, Widely spaced teeth, Thin upper lip vermilion OMIM:619877
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hypoproteinemia, Splenomegaly... OMIM:603553
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Hypertonia, Open bite, Abnormality of the dentition, Micrognath... OMIM:115150
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Takenouchi-Kosaki Syndrome
Dental malocclusion, Wide mouth, Ataxia, Short philtrum, Long philtrum, Downturned corners of mou... OMIM:616737
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth ORPHA:2115
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... ORPHA:561854
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased circulati... ORPHA:444490
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Blepharospasm, Babinski sign, Tremor, Abnormal posturing OMIM:128100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion OMIM:608940
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Carious teeth OMIM:615560
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... OMIM:615546
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Motor stereotypy, Microdontia, Downturned corners of mouth OMIM:618347
Hamamy Syndrome
High palate, Wide mouth, Dental malocclusion, Hypodontia, Everted lower lip vermilion, Micrognath... OMIM:611174
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... OMIM:601390
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Malar flattening, Everted lower lip vermilion, Macrodontia, Tented uppe... ORPHA:228402
Hallermann-Streiff Syndrome
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... OMIM:234100
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Recurrent hand flapping, Short philtrum, Downturned corners of mouth, Smooth phi... OMIM:613192
Perrault Syndrome 6
Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Premature ovarian... OMIM:617565
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Ataxia, Exaggerated startle response, Tented upper lip vermilion, Incisor macrodonti... ORPHA:438216
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Xq28 (MECP2) duplication
Motor stereotypy, Narrow mouth, Malar flattening, Progressive spasticity, Gait ataxia DECIPHER:45
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Spasticity, Chorea ORPHA:88616
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Hypogonadotropic hypo... OMIM:603457
Kabuki Syndrome 2
High palate, Dental malocclusion, Hypodontia, Cleft palate, Micrognathia, Lower lip pit, Natal tooth OMIM:300867
Lipodystrophy, Familial Partial, Type 2
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Decreased HDL cholesterol concentratio... OMIM:151660
Alazami Syndrome
Motor stereotypy, Wide mouth, Malar flattening, Short philtrum, Stereotypical hand wringing, Wide... ORPHA:319671
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Griscelli Syndrome Type 1
Ataxia, Hyperlipidemia ORPHA:79476
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Cleft palate, Long philtrum, Tented upper lip vermilion, Mandib... OMIM:618975
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Glucose intolerance, Premature loss of teeth, Hyperlipidemia, Hyperinsulinemia, Narr... OMIM:608612
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Persistence of primary teeth, Cleft palate, Delayed eruption of... OMIM:305620
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Wide mouth, Recurrent hand flapping, High, narrow palate, Thick lower lip vermilion OMIM:617268
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Barber-Say Syndrome
High palate, Wide mouth, Dental malocclusion, Gingival overgrowth, Velopharyngeal insufficiency, ... OMIM:209885
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Noonan Syndrome 4
Thick vermilion border, Wide mouth, Dental malocclusion OMIM:610733
Martin-Probst Syndrome
Dental malocclusion, Chordee, Wide mouth, Malar flattening, Micrognathia, Thick lower lip vermilion OMIM:300519
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Ataxia, Inability to walk... ORPHA:167
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Long philtrum, Recurrent hand flapping, Open mouth OMIM:615032
Biemond Syndrome Type 2
Hydrocephalus, Coloboma ORPHA:141333
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... OMIM:211380
Intellectual Developmental Disorder, Autosomal Recessive 38
Mandibular prognathia, Narrow palate, Recurrent hand flapping OMIM:615516
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing, Tented upper lip vermilion, Thin upper lip vermilion, Th... OMIM:619854
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor OMIM:616202
Craniofaciofrontodigital Syndrome
Dental malocclusion, Abnormality of the dentition, Long philtrum OMIM:114620
7Q11.23 Microduplication Syndrome
High palate, Dental malocclusion, Motor stereotypy, Dysmetria, Retrognathia, Micrognathia, Short ... ORPHA:96121
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,... OMIM:613327
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Cockayne Syndrome
Dental malocclusion, Ataxia, Action tremor, Inability to walk, Hepatomegaly, Abnormal number of t... ORPHA:191
4Q21 Microdeletion Syndrome
Motor stereotypy, Thin vermilion border, Abnormality of the dentition, Short philtrum, Downturned... ORPHA:238750
Christianson Syndrome
Motor stereotypy, Mandibular prognathia, Gait ataxia, Truncal ataxia ORPHA:85278
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of te... OMIM:615873
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Short philtrum, Babinski sign, Long philtrum, Bifid uvula, Truncal a... OMIM:619121
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spondyloenchondrodysplasia
Spasticity, Dental malocclusion, Delayed eruption of teeth, Chorea ORPHA:1855
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Long uvula... ORPHA:536532
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Narrow palate, Hyperplasia of the maxilla, Exaggerated median tongue furrow, De... ORPHA:313892
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Coloboma OMIM:136760
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Increased overbite OMIM:618504
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Hyperlipidemia, Menorrhagia, Hyperuricemia ORPHA:35909
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity OMIM:617695
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Periodic hypokalemic paresis OMIM:259730
Schwartz-Jampel Syndrome
High palate, Dental malocclusion, Narrow mouth, Blepharospasm, Pursed lips, Cleft palate, Everted... ORPHA:800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
High palate, Motor stereotypy, Narrow mouth, Ataxia, Malar flattening, Rigidity, Chorea, Progress... OMIM:300260
Joubert Syndrome 14
Coloboma, Hydrocephalus, Encephalocele OMIM:614424
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Localized Scleroderma
Dental malocclusion, Abnormal facial skeleton morphology, Abnormality of the dentition, Abnormali... ORPHA:90289
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathia, Agenesis ... OMIM:616894
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Micrognathia, Thick vermilion border, Upper motor neuron dysfunction ORPHA:530983
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Upper limb spasticity, Myoclonus, Delayed eruption of teeth, Stereotypi... OMIM:619229
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... ORPHA:2089
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Oliver Syndrome
High palate, Mandibular prognathia, Short philtrum, Dental malocclusion ORPHA:2920
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Cleft palate, Malar flattenin... OMIM:610829
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Short philtrum, Open mouth ORPHA:228384
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft upper lip, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micr... OMIM:300373
Microtriplication 11Q24.1
Hyperlipidemia, Irregularly spaced teeth, Cleft palate, Short philtrum, Smooth philtrum ORPHA:289522
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Retrognathia, Oromotor apraxia, Downturned corners of mouth, Spasticity, Repetitive compulsive be... ORPHA:391372
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Abnormal posturing OMIM:614857
Woodhouse-Sakati Syndrome
Anodontia, Hyperlipidemia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Choreoa... OMIM:241080
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Motor stereotypy, Hyperkinetic movements, Tremor, Upper limb spasticity ORPHA:457240
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Macrocephaly-Developmental Delay Syndrome
High palate, Mandibular prognathia, Motor stereotypy, Microretrognathia ORPHA:397612
Aromatase Deficiency
Type II diabetes mellitus, Female infertility, Hyperlipidemia, Hypergonadotropic hypogonadism, Pr... ORPHA:91
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... ORPHA:275864
Coffin-Siris Syndrome 7
Motor stereotypy, Wide mouth, Short philtrum, Microdontia, Downturned corners of mouth, Broad phi... OMIM:618027
Mandibuloacral Dysplasia Progeroid Syndrome
High palate, Glucose intolerance, Narrow mouth, Hepatomegaly, Hypodontia, Elevated hemoglobin A1c... OMIM:619127
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Dental crowding, Motor stereotypy, Retrognathia, Micrognathia, Short philtrum, Oligo... OMIM:617061
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Mala... OMIM:154780
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Narrow palate, Malar flattening, Retrognathia, Oligodontia, De... OMIM:235510
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
High palate, Motor stereotypy, Everted lower lip vermilion, Short philtrum, Gait ataxia, Tented u... OMIM:616579
Turnpenny-Fry Syndrome
High palate, Dental malocclusion, Narrow mouth, Torticollis, Malar flattening, Abnormality of the... OMIM:618371
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Inability to walk, Tooth agenesis, High, narrow palate, Cleft palate, Open b... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Inability to walk, Tooth agenesis, High, narrow palate, Cleft palate, Open b... ORPHA:352665
Cockayne Syndrome B
Dental malocclusion, Ataxia, Hepatomegaly, Splenomegaly, Death in childhood, Carious teeth, Tremo... OMIM:133540
Radio-Tartaglia Syndrome
High palate, Wide mouth, Dental crowding, Ataxia, Motor stereotypy, High, narrow palate, Retrogna... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
High palate, Wide mouth, Ataxia, Hypertonia, Recurrent hand flapping, Motor stereotypy, Micrognat... OMIM:300986
Kleefstra Syndrome 1
Motor stereotypy, U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Evert... OMIM:610253
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hepatomegaly, Macroglossia, Splenomegaly, ... OMIM:256040
Angelman Syndrome Due To A Point Mutation
Wide mouth, Ataxia, Recurrent hand flapping, Tongue thrusting, Widely spaced teeth, Protruding to... ORPHA:411511
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Retrognathia, Micrognathia, Cerebral palsy, Mandibular prognathia OMIM:618914
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia OMIM:617591
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Widely spaced teeth, Smooth philtrum OMIM:616351
Primary Pigmented Nodular Adrenocortical Disease
Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... ORPHA:189439
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Splenomegaly, Hyperproteinemi... ORPHA:158048
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Macroglossia, Everted lower lip vermilion, Tented upper lip vermilion, Mandibul... ORPHA:261144
Nestor-Guillermo Progeria Syndrome
Dental malocclusion, Microretrognathia, Thin vermilion border, Micrognathia, Mandibular osteolysi... OMIM:614008
Atypical Werner Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Thin vermilion border, Micrognathia, Glycosuria, Hyp... ORPHA:79474
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:619802
Multiple Pterygium Syndrome, Escobar Variant
High palate, Dental malocclusion, Narrow mouth, Triangular mouth, Cleft palate, Micrognathia, Lon... OMIM:265000
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Narrow mouth, Dysmetria, Dysdiadochokinesis, Distal sensory impairment, Impa... OMIM:606721
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplastic spleen OMIM:619313
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... ORPHA:189427
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Wide mouth, Gingival overgrowth, Hypertonia, Everted lower lip vermilion, Retro... OMIM:212066
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Premature loss of permanent teeth, Hypercholesterolemia OMIM:610644
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Thin vermilion border, Micrognathia, ... ORPHA:73223
Coach Syndrome 2
Hydrocephalus, Chorioretinal coloboma, Coloboma OMIM:619111
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Narrow palate, Micrognathia, Hypoplasia of the maxilla OMIM:182212
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Widely spaced teeth, Tr... ORPHA:98794
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Gingival overgrowth, Ataxia, Long philtrum, Head tremor, Smooth philtrum OMIM:619428
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Premature loss of teeth, High, narrow palate, Malar flattening, Micrognathia, Long philtrum, Down... ORPHA:369837
Pallister W Syndrome
Agenesis of central incisor, Broad uvula, Spasticity, Agenesis of maxillary central incisor, Subm... OMIM:311450
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Decreased liver function, Ataxia, Hyperlipidemia, Hepatomegaly, Neoplasm of the l... ORPHA:77293
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea OMIM:617600
Apert Syndrome
Dental malocclusion, Narrow palate, Cleft palate, Malar flattening, Delayed eruption of teeth, Bi... OMIM:101200
Lysosomal Acid Lipase Deficiency
Decreased liver function, Microvesicular hepatic steatosis, Steatorrhea, Hepatic failure, Hepatos... ORPHA:275761
Williams Syndrome
Gait imbalance, Cholelithiasis, Ataxia, Wide mouth, Microdontia, Carious teeth, Death in early ad... ORPHA:904
Odontoonychodermal Dysplasia
Widely spaced primary teeth, Hypodontia, Agenesis of permanent teeth, Smooth tongue, Abnormality ... OMIM:257980
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Downtu... ORPHA:435638
Woodhouse-Sakati Syndrome
Anodontia, Hyperinsulinemia, Hyperlipidemia, Streak ovary, Choreoathetosis, Insulin-resistant dia... ORPHA:3464
Ritscher-Schinzel Syndrome 4
High palate, Wide mouth, Ataxia, Narrow palate, Motor stereotypy, Short philtrum, Chorea, Athetos... OMIM:619435
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Dental malocclusion, Narrow palate, Deep philtrum, Trismus OMIM:227330
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Gait ataxia, Tented upper lip vermilion, Spasticity OMIM:617807
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Micrognathia, Natal tooth OMIM:617802
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... ORPHA:79264
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Long philtrum OMIM:612731
Fragile X Syndrome
Mandibular prognathia, Recurrent hand flapping OMIM:300624
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Wide mouth, Short philtrum, Long philtrum, Downturned corners of mouth, Wide... ORPHA:487796
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Hepatic fa... ORPHA:470
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Tongue thrusting, Widely spaced teeth, Protruding tongue, Mandibular prognathia ORPHA:98795
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Orofacial Cleft 15
Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate OMIM:616788
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Motor stereotypy, Eruption failure, Abnormality of the dentition, Micrognathia, Long... ORPHA:476126
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Thin vermilion border, Abnormality of the dentition, Motor stereotypy ORPHA:391307
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Thin vermilion bor... OMIM:300912
Hajdu-Cheney Syndrome
High palate, Dental malocclusion, Premature loss of teeth, Micrognathia, Long philtrum, Absent fr... OMIM:102500
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Cleft palate, Malar flattening... OMIM:252100
Ellis Van Creveld Syndrome
Hypodontia, Thin vermilion border, Abnormality of the dentition, Delayed eruption of teeth, Micro... ORPHA:289
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Wide mouth, Hypertonia, Abnormality of the dentition, Babinski sign, Bifid uvul... OMIM:615802
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula OMIM:601552
Frank-Ter Haar Syndrome
High palate, Wide mouth, Gingival overgrowth, Dental malocclusion, Micrognathia, Broad alveolar r... OMIM:249420
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Premature loss of teeth, Dental crowding, Hyperinsulinemia, Hyperlipidemia, Hepatome... OMIM:248370
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... ORPHA:364577
Osteogenesis Imperfecta
Dental malocclusion, Ataxia, Loss of ambulation, Dentinogenesis imperfecta, Abnormality of the de... ORPHA:666
Rubinstein-Taybi Syndrome 1
High palate, Dental malocclusion, Narrow mouth, Narrow palate, High, narrow palate, Cleft palate,... OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Short philtrum, Gait ataxia, Spasticity, Mandibular prognathia, Thin upper lip ... OMIM:300486
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Methanol Poisoning
Hyperlipidemia, Type II diabetes mellitus, Type I diabetes mellitus ORPHA:31825
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Rett Syndrome
Gait apraxia, Abnormality of the dentition, Stereotypical hand wringing, Truncal ataxia, Gait ata... OMIM:312750
Familial Multiple Lipomatosis
Insulin resistance, Odontogenic keratocysts of the jaw, Hyperlipidemia, Premature eruption of per... ORPHA:199276
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Malar flattening, Abnormality of dental eruption,... OMIM:211910
Inverted Duplicated Chromosome 15 Syndrome
High palate, Short philtrum, Motor stereotypy ORPHA:3306
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Peg-shaped maxillary l... OMIM:150400
Hydroxykynureninuria
Motor stereotypy, Stomatitis, Hypertonia ORPHA:79155
Microphthalmia, Syndromic 2
Dental malocclusion, Persistence of primary teeth, Supernumerary tooth, Spastic paraparesis, Radi... OMIM:300166
W Syndrome
Broad uvula, Spasticity, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft ha... ORPHA:2804
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Dental malocclusion, Narrow palate, Supernumerary tooth, Hypodontia, Carious te... ORPHA:353281
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Mandibular prognathi... OMIM:619103
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping, High, narrow palate, Everted lower lip vermilion, Open mouth... ORPHA:352577
Distal Xq28 Microduplication Syndrome
High palate, Stereotypical body rocking, Short lingual frenulum, Hypoplasia of the maxilla, Open ... ORPHA:293939
Megalocornea-Intellectual Disability Syndrome
High palate, Motor stereotypy, Ataxia, Everted lower lip vermilion, Micrognathia, Short philtrum,... ORPHA:2479
Chromosome 5P13 Duplication Syndrome
High palate, Short philtrum, Motor stereotypy OMIM:613174
Bilateral Generalized Polymicrogyria
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus ORPHA:208447
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Motor stereotypy, Short philtrum, Downturned corners of mouth, Open mouth, Smooth ph... OMIM:617796
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
22Q11.2 Duplication Syndrome
Motor stereotypy, Micrognathia, Smooth philtrum, Cleft palate ORPHA:1727
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Downturned corners of mouth, Tremor, Speech apraxia, Thin u... OMIM:619680
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Supernumerary maxillary incisor, Bilateral... ORPHA:199302
Bainbridge-Ropers Syndrome
High palate, Wide mouth, Gingival overgrowth, Hypertonia, Recurrent hand flapping, Motor stereoty... OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Open mouth OMIM:617751
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Diastema, Protrud... OMIM:301040
Wiedemann-Rautenstrauch Syndrome
Premature loss of teeth, Ataxia, Action tremor, Type II diabetes mellitus, Narrow mouth, Malar fl... ORPHA:3455
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Micrognathia, Progressive spasticity, Widely spaced teeth, S... ORPHA:496641
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia, Impaired temperature sensation, Hepatosplenomegaly ORPHA:31150
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, H... OMIM:619573
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Malar flattening, Speech apraxia, Spasticity, Mandibular prognathia... OMIM:300352
Rett Syndrome, Congenital Variant
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Thin upper lip vermilion OMIM:613454