Gene: Itga11 MGI:2442114

Gene Summary

Name:

integrin alpha 11

Synonyms:

4732459H24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
tremors	Itga11^em1(IMPC)H	HOM	Early adult	3.87×10^-05
decreased fasting circulating glucose level	Itga11^em1(IMPC)H	HOM	Early adult	4.85×10^-07
decreased spleen weight	Itga11^em1(IMPC)H	HOM	Early adult	8.33×10^-06
decreased circulating glucose level	Itga11^em1(IMPC)H	HOM	Early adult	6.35×10^-05
abnormal tooth morphology	Itga11^em1(IMPC)H	HOM	Early adult	1.14×10^-15

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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 Itga11 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 Itga11 (0 diseases)
Human diseases predicted to be associated with Itga11 (935 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itga11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Dentin Dysplasia, Type I	Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ...	OMIM:125400
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Amelogenesis Imperfecta, Type Ij	Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	OMIM:617297
Dentinogenesis Imperfecta, Shields Type Iii	Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ...	OMIM:125500
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors	OMIM:114700
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia	OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth	OMIM:615887
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena...	ORPHA:49042
Taurodontism, Microdontia, And Dens Invaginatus	Dens in dente, Taurodontia, Microdontia, Pulp calcification	OMIM:313490
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification	OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel	OMIM:613211
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth	ORPHA:1094
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth	OMIM:614564
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	OMIM:612529
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr...	ORPHA:2972
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Amelogenesis Imperfecta, Type Ih	Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters, Carious teeth	ORPHA:79406
Epidermolysis Bullosa, Junctional 1A, Intermediate	Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia	OMIM:226650
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia	Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Ectodermal Dysplasia/Short Stature Syndrome	Enamel hypoplasia, Dysphagia, Hypodontia	OMIM:616029
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Oral mucosal blisters, Atrophic scars, Carious teeth	ORPHA:79405
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta	OMIM:104510
Amelogenesis Imperfecta, Type Ia	Taurodontia, Amelogenesis imperfecta, Generalized microdontia	OMIM:104530
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:125490
Amelogenesis Imperfecta, Type If	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color	OMIM:616270
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:71267
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Fryns Macrocephaly	Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor...	OMIM:600302
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Failure to thrive, Atrophic scars, Carious teeth	OMIM:226700
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Enamel hypoplasia	OMIM:202900
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva...	ORPHA:2025
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Epidermolysis Bullosa, Junctional 4, Intermediate	Scarring alopecia of scalp, Dental enamel pits, Carious teeth	OMIM:619787
Fibromatosis, Gingival, With Distinctive Facies	High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir...	OMIM:228560
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Gingival fibromatosis	ORPHA:2026
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet...	ORPHA:2228
Trichodental Dysplasia	Odontodysplasia, Conical tooth, Hypodontia	OMIM:601453
17Q11.2 Microduplication Syndrome	Thin vermilion border, Enamel hypoplasia, Abnormal dental enamel morphology, Malar flattening	ORPHA:139474
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Pyle Disease	Delayed eruption of teeth, Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Abs...	OMIM:265900
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia	OMIM:615905
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Abnormal dental...	ORPHA:2325
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Scarring alopecia of scalp, Oral mucosal blisters, Atrophic scars	ORPHA:79402
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Thick vermilion border, Carious teeth	ORPHA:363523
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding	OMIM:600907
Amelogenesis Imperfecta, Type Ic	Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati...	OMIM:204650
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel	OMIM:203550
Hall-Riggs Mental Retardation Syndrome	U-Shaped upper lip vermilion, Failure to thrive, Hypoplasia of the primary teeth, Microdontia of ...	OMIM:234250
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Jalili Syndrome	Amelogenesis imperfecta, Carious teeth	OMIM:217080
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Hypodontia	OMIM:300636
Hemifacial Atrophy, Progressive	Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te...	OMIM:618386
Ramon Syndrome	Failure to thrive, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dent...	ORPHA:3019
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Trichoodontoonychial Dysplasia With Bone Deficiency	Enamel hypoplasia, Anodontia	OMIM:275450
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	High palate, Tremor, Spastic paraplegia	OMIM:309560
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Catifa Syndrome	Tooth malposition, Cleft palate, Inguinal hernia, Long philtrum, Delayed eruption of teeth, Campt...	OMIM:618761
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ...	ORPHA:1028
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Otodental Syndrome	Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn...	ORPHA:2791
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:612463
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Episodic Ataxia, Type 1	Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia	OMIM:160120
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting...	OMIM:273050
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,...	ORPHA:1193
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth	OMIM:613849
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	OMIM:261560
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	High palate, Mandibular prognathia, Enamel hypoplasia, Malar flattening	OMIM:600991
Growth Hormone Insensitivity Syndrome	Failure to thrive, Delayed eruption of teeth, Truncal obesity, Everted lower lip vermilion	ORPHA:181393
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor	OMIM:619491
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Shagreen patch, Delayed eruption of teeth, Hypodontia	ORPHA:1816
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Conical mandibular inci...	OMIM:601668
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Increased body mass index, Delayed eruption of teeth, Omphalocele, Increased body w...	OMIM:614450
Filippi Syndrome	Decreased body weight, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Serrated i...	OMIM:272440
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Enlarged tonsils, Increased hepatic glycogen content, Hypoketotic hypoglycemia, Nonketotic hypogl...	ORPHA:293964
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:166272
Localized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Dental enamel pits, Limb joint contracture, Atypical scarring of skin, Scarrin...	ORPHA:251393
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Tremor, Hereditary Essential, 6	Kinetic tremor, Vocal tremor, Postural tremor, Head tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor	OMIM:616736
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ...	ORPHA:464440
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Carious teeth	OMIM:604922
48,Xyyy Syndrome	High palate, Irregularly spaced teeth, Long philtrum, Enamel hypoplasia, Thick lower lip vermilion	ORPHA:99329
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion	ORPHA:181
Tricho-Dento-Osseous Syndrome	Taurodontia, Periapical tooth abscess, Microdontia, Widely spaced teeth, Enamel hypomineralizatio...	ORPHA:3352
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Scarring alopecia of scalp, Increased connective tissue, Carious teeth	OMIM:226670
Spinocerebellar Ataxia Type 15/16	Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Hip contracture, Tooth agenesis, Microretrognathia, Cleft palate, Inguinal hernia, M...	OMIM:618363
Intellectual Disability, Birk-Barel Type	High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ...	ORPHA:166108
Primary Dystonia, Dyt13 Type	Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar...	ORPHA:98807
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Oligodontia, Taurodontia	OMIM:272980
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Micrognathia	OMIM:251190
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Delayed eruption of teeth, Br...	ORPHA:2863
Pili Torti	Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:2889
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Slurred speech	ORPHA:401953
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Jalili Syndrome	Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color	ORPHA:1873
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Widely spaced teeth, Dental malocclusion, Malar flattening	OMIM:616108
Trichodentoosseous Syndrome	Widely spaced teeth, Taurodontia, Microdontia	OMIM:190320
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Clark-Baraitser syndrome	Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ...	OMIM:300602
Dystonia 27	Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor	OMIM:616411
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Liang-Wang Syndrome	Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia...	OMIM:618729
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia	OMIM:262020
Coffin-Siris Syndrome 10	Wide mouth, Persistence of primary teeth	OMIM:618506
Intellectual Developmental Disorder, Autosomal Recessive 6	Tremor, Myoclonus, Involuntary movements, Dystonia	OMIM:611092
Dental Anomalies And Short Stature	Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ...	OMIM:601216
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec...	ORPHA:1946
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, ...	ORPHA:79299
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup...	OMIM:104570
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Laron Syndrome	Tooth agenesis, Micrognathia, Delayed eruption of teeth, Truncal obesity, Microdontia	ORPHA:633
Dystonia 3, Torsion, X-Linked	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi...	OMIM:314250
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Prominent median palatal raphe, Exaggerated median tongue ...	OMIM:300431
Pseudohypoaldosteronism Type 2	Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:757
Glutathionuria	Tremor	OMIM:231950
Tetrasomy 12P	Thick upper lip vermilion, Abnormal soft palate morphology, Everted lower lip vermilion, Cachexia...	ORPHA:884
Mulibrey Nanism	Dental malocclusion, Hypodontia, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental crowding,...	OMIM:253250
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Carious teeth	OMIM:161000
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Incisor macrodontia, Widely-spaced maxillary central incisors, Thin upper li...	OMIM:619719
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis	OMIM:601820
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Teebi Hypertelorism Syndrome 2	High palate, Cleft palate, Everted lower lip vermilion, Microdontia, Delayed eruption of teeth, T...	OMIM:619736
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth	OMIM:612843
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Leukoencephalopathy, Brain Calcifications, And Cysts	Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy...	OMIM:614561
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Leukoencephalopathy with metaphyseal chondrodysplasia	Spastic paraplegia, Tremor, Babinski sign, Malar flattening	OMIM:300660
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Spinocerebellar Ataxia 20	Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor	OMIM:608687
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding	OMIM:618825
Taurodontism	Taurodontia	OMIM:272700
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Hall-Riggs Syndrome	Wide mouth, Failure to thrive, Delayed eruption of teeth, Downturned corners of mouth, Thick verm...	ORPHA:2107
4H Leukodystrophy	Dysphagia, Abnormality of the dentition, Hypodontia, Delayed eruption of teeth	ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 20	High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Camptodacty...	OMIM:616354
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Narrow mouth, Failure to thrive, Macrodontia of permanent maxillary central ...	OMIM:257850
Orofaciodigital Syndrome Type 5	Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth...	ORPHA:2919
Frank-Ter Haar Syndrome	Wide mouth, Gingival overgrowth, Premature loss of teeth, Inguinal hernia, Short philtrum, Campto...	ORPHA:137834
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv...	OMIM:264475
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d...	ORPHA:69087
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Amelogenesis imperfecta, Malar flattening	OMIM:614727
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Hypoglycemia, Leucine-Induced	Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity	OMIM:240800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Narrow mouth, Micrognathia, Microdontia, Open mouth, Delayed eruption of permanent teeth	OMIM:619356
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent teeth	ORPHA:1811
Tooth Agenesis, Selective, X-Linked, 1	Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later...	OMIM:313500
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,...	OMIM:214150
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors	OMIM:610706
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:612462
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Camptodactyly, Enamel hy...	OMIM:619980
Acrootoocular Syndrome	Anodontia, Dental malocclusion, Failure to thrive, Supernumerary tooth, High, narrow palate, Smal...	ORPHA:2980
48,Xxyy Syndrome	Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ...	ORPHA:10
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia	OMIM:618425
Osteogenesis Imperfecta, Type Xi	Abnormality of the dentition, Dentinogenesis imperfecta	OMIM:610968
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En...	OMIM:618727
Cockayne Syndrome Type 2	Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Flexion contra...	ORPHA:90322
Segawa Syndrome, Autosomal Recessive	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis...	OMIM:605407
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Spinocerebellar Ataxia 43	Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia	OMIM:617018
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	High palate, Dental crowding, Overjet, Decreased body weight, Persistence of primary teeth, Hypod...	OMIM:618342
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion	OMIM:619797
Immunodeficiency 9	Stomatitis, Failure to thrive, Amelogenesis imperfecta, Recurrent aphthous stomatitis	OMIM:612782
Oculocerebrodental Syndrome	Retrognathia, Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia	ORPHA:557003
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	High palate, Failure to thrive, Malar flattening, Bilateral cleft lip and palate, Enamel hypoplas...	OMIM:618874
Odontochondrodysplasia 1	Long philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta	OMIM:184260
X-Linked Non-Syndromic Intellectual Disability	Small for gestational age, Long philtrum, Delayed eruption of teeth, Obesity, Thin upper lip verm...	ORPHA:777
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Acrofacial Dysostosis, Weyers Type	Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med...	ORPHA:952
Coffin-Siris Syndrome 3	Wide mouth, Delayed eruption of permanent teeth, Macroglossia	OMIM:614608
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia	ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly	OMIM:615158
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity	OMIM:300911
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Ataxia, Babinski sign, Spasticity	OMIM:611105
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Cole-Carpenter Syndrome 2	High palate, Dentinogenesis imperfecta, Microretrognathia	OMIM:616294
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Taurodontia, Pulp calcification	OMIM:211900
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par...	OMIM:260300
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Delayed eruption...	OMIM:619269
Cranioectodermal Dysplasia	Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ...	ORPHA:1515
Coffin-Siris Syndrome 2	High palate, Wide mouth, Cleft palate, Macroglossia, Inguinal hernia, Short philtrum, Long philtr...	OMIM:614607
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Oligodontia, Scarring alopecia of scalp, Hypodontia, Abnormal dental enamel morphology	ORPHA:59303
Nance-Horan Syndrome	Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors	OMIM:302350
Osteogenesis Imperfecta, Type Iii	Micrognathia, Dentinogenesis imperfecta	OMIM:259420
Aredyld Syndrome	Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Lipoatrophy, Cachexia...	ORPHA:1133
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia	OMIM:263540
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Hypodontia, Cleft palate, Oligodontia, Enamel hypoplasia, Thick vermilion border...	OMIM:619184
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Ataxia, Dystonia	OMIM:616113
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Corneal scarring, Narrow mouth, Oral mucosal blisters, Flexion contracture, Enamel hypoplasia, At...	OMIM:226600
Pycnodysostosis	Narrow palate, Persistence of primary teeth, Hypodontia, Micrognathia, Carious teeth, Delayed eru...	OMIM:265800
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Obesity, Delayed eruption of teeth	OMIM:103580
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Atrophic scars, Carious teeth	ORPHA:79411
Eem Syndrome	Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot...	ORPHA:1897
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Enamel hypoplasia, Oligodontia, Hypodontia	OMIM:607626
Craniometaphyseal Dysplasia, Autosomal Recessive	Broad alveolar ridges, Mandibular prognathia, Delayed eruption of permanent teeth, Facial hyperos...	OMIM:218400
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1782
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Temtamy Preaxial Brachydactyly Syndrome	Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp	OMIM:605282
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis	OMIM:261650
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Hypoplasia of the ma...	OMIM:601812
Spinocerebellar Ataxia Type 20	Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica...	ORPHA:101110
Momo Syndrome	High palate, Dental malocclusion, Taurodontia, Long philtrum, Delayed eruption of teeth, Obesity,...	OMIM:157980
Mandibulofacial Dysostosis With Alopecia	Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,...	OMIM:616367
Qazi-Markouizos Syndrome	Hypoplasia of teeth, Broad philtrum, High, narrow palate, Open mouth	ORPHA:3010
Aarskog-Scott Syndrome	Cleft upper lip, Cleft palate, Everted lower lip vermilion, Inguinal hernia, Abnormality of the d...	ORPHA:915
Amelogenesis Imperfecta, Type Ig	Gingival overgrowth, Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin...	OMIM:612350
Corneodermatoosseous Syndrome	Hypomature dental enamel	OMIM:122440
Rubinstein-Taybi Syndrome 2	High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre...	OMIM:613684
Three M Syndrome 2	High palate, Dental malocclusion, Malar flattening, Small for gestational age, Long philtrum, Del...	OMIM:612921
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters, Arthrogryposis multiplex congenita, Atrophic scars	OMIM:226730
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Auriculocondylar Syndrome 2	Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi...	OMIM:614669
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypodontia, Oligodontia, Delayed eruption of teeth, Natal tooth, Dysphagia	OMIM:614381
Temple-Baraitser Syndrome	High palate, Wide mouth, Gingival overgrowth, Malar flattening, Everted lower lip vermilion, Long...	ORPHA:420561
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Microdontia, Enamel hypopla...	OMIM:619293
Odontotrichoungual-Digital-Palmar Syndrome	Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth	OMIM:601957
Pycnodysostosis	High palate, Dental malocclusion, Obtuse angle of mandible, Persistence of primary teeth, Hypodon...	ORPHA:763
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Abnormality of the dentition, Carious teeth	ORPHA:3270
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity	ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus	OMIM:616921
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small for gestational age, Micrognathia, Delayed eruption of teeth, Truncal ob...	ORPHA:73272
Tremor-Ataxia-Central Hypomyelination Syndrome	Dysphagia, Oligodontia, Hypodontia, Delayed eruption of teeth	ORPHA:447896
Short Syndrome	Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for gestational age, Microgn...	OMIM:269880
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal palate morphology, Abnormal dental enamel morphology	ORPHA:3236
Char Syndrome	No permanent dentition, Persistence of primary teeth, Triangular mouth, Malar flattening, Everted...	ORPHA:46627
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e...	ORPHA:50814
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth	ORPHA:2501
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Oculofaciocardiodental Syndrome	Tooth malposition, Cleft palate, Flexion contracture of the 2nd toe, Abnormality of the dentition...	ORPHA:2712
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth, Carious teeth	OMIM:277440
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Codas Syndrome	Abnormality of dental morphology, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth	OMIM:264700
Paralysis Agitans, Juvenile, Of Hunt	Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia	OMIM:168100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Malar flattening, Mandibular prognathia, Obesity, Abnormal dental enamel morphology	ORPHA:2180
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth	ORPHA:3145
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Frequent falls, Tremor, Hemiballismus, Chorea	ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 4	Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations...	OMIM:607317
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly	OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Abnormality of the dentiti...	ORPHA:363417
Andersen Cardiodysrhythmic Periodic Paralysis	High palate, Prominent frontal sinuses, Persistence of primary teeth, Cleft palate, Malar flatten...	OMIM:170390
Momo Syndrome	High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Long philtrum, Delayed ...	ORPHA:2563
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Kohlschutter-Tonz Syndrome-Like	Decreased body weight, Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Widely spaced...	OMIM:619229
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Foca...	ORPHA:216873
Dystonia, Dopa-Responsive	Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti...	OMIM:128230
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Hypodontia, Flexion contracture, Carious teeth	OMIM:612079
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Frequent falls, Tremor, Myoclonus, Dystonia	OMIM:619647
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly	OMIM:609016
Bone Marrow Failure Syndrome 3	Failure to thrive, Hypodontia, Micrognathia, Microdontia, Enamel hypoplasia, Hernia, Amelogenesis...	OMIM:617052
Osteoglosphonic Dysplasia	Tooth agenesis, Inguinal hernia, Micrognathia, Multiple unerupted teeth, Failure to thrive in inf...	ORPHA:2645
Ohdo Syndrome	Narrow mouth, Thin vermilion border, Micrognathia, Long philtrum, Widely spaced teeth, Hypoplasia...	OMIM:249620
Spastic Ataxia 2, Autosomal Recessive	Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci...	OMIM:611302
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, High, narrow palate, Small for gestational ag...	OMIM:216550
Osteogenesis Imperfecta, Type X	Micrognathia, Inguinal hernia, Dentinogenesis imperfecta, Malar flattening	OMIM:613848
Usher Syndrome Type 2	Abnormality of dental color, Microdontia, Abnormal dental enamel morphology, Carious teeth	ORPHA:231178
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Specific Granule Deficiency 2	Amelogenesis imperfecta, Failure to thrive, Conical tooth, Tooth malposition	OMIM:617475
Spinocerebellar Ataxia, Autosomal Recessive 21	Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti...	OMIM:616719
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Delayed eruption of teeth	ORPHA:3214
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Enamel-Renal Syndrome	Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d...	ORPHA:1031
Seckel Syndrome 1	High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Elbow flexion co...	OMIM:210600
Scarf Syndrome	Inguinal hernia, Long philtrum, Enamel hypoplasia, Umbilical hernia, Hypocalcification of dental ...	ORPHA:3134
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Teeth, Supernumerary	Supernumerary tooth, Mesiodens	OMIM:187100
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Tremor, Spasticity, Apraxia, Dystonia	OMIM:615889
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ...	OMIM:607688
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia	OMIM:615924
48,Xxxy Syndrome	Taurodontia, Cleft palate, Open bite, Inguinal hernia, Delayed eruption of teeth, Carious teeth, ...	ORPHA:96263
Branchioskeletogenital Syndrome	Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif...	ORPHA:1299
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Failure to thrive, Enamel hypoplasia	OMIM:614576
Neonatal Hemochromatosis	Hypoglycemia, Micrognathia, Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Hypophosphatasia, Childhood	Premature loss of primary teeth, Carious teeth	OMIM:241510
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Mandibular prognathia, Advanced eruption of teeth, Small for gestational age	OMIM:262190
Cole-Carpenter Syndrome	Micrognathia, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2050
Temtamy Syndrome	Dental crowding, Hypoplasia of teeth, Micrognathia, Long philtrum	OMIM:218340
Dystonia 11, Myoclonic	Torticollis, Tremor, Myoclonus, Writer's cramp	OMIM:159900
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Failure to thrive, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia	OMIM:615802
Oculotrichodysplasia	Widely spaced primary teeth, Agenesis of permanent teeth, Microdontia of primary teeth, Carious t...	OMIM:257960
Xfe Progeroid Syndrome	Corneal scarring, Premature loss of teeth, Failure to thrive, Cachexia, Enamel hypoplasia, Absenc...	OMIM:610965
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate	OMIM:619692
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Chst3-Related Skeletal Dysplasia	Long philtrum, Delayed eruption of teeth, Flexion contracture	ORPHA:263463
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattenin...	ORPHA:364028
Cockayne Syndrome Type 1	Anodontia, Widely spaced primary teeth, Scarring, Hypoplasia of the primary teeth, Failure to thr...	ORPHA:90321
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Narrow palate, Micrognathia, Long philtrum, Delayed eruption of teeth, Micro...	OMIM:190350
Lowry-Maclean Syndrome	High, narrow palate, Cleft palate, Congenital diaphragmatic hernia, Retrognathia, Micrognathia, I...	ORPHA:2409
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Camptodactyly Syndrome, Guadalajara Type 1	High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Campto...	ORPHA:1327
Cleidocranial Dysplasia	Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnor...	ORPHA:1452
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap...	ORPHA:79262
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Parkinson Disease 2, Autosomal Recessive Juvenile	Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia	OMIM:600116
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Narrow mouth, Decreased body weight, Small for gestational age, Micrognathia, Short philtrum, Oli...	ORPHA:391408
Migraine, Familial Hemiplegic, 1	Hemiplegia, Tremor, Ataxia, Hemiparesis	OMIM:141500
X-Linked Hypophosphatemia	Cellulitis, Odontodysplasia, Enthesitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Oligodontia, Hypodontia, Natal tooth	OMIM:601345
Emanuel Syndrome	High palate, Multiple joint contractures, Failure to thrive, Tooth malposition, Cleft palate, Con...	ORPHA:96170
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, Micrognathia, Mu...	ORPHA:2063
Short Syndrome	Malar flattening, Inguinal hernia, Abnormality of the dentition, Microdontia, Lipodystrophy, Abno...	ORPHA:3163
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Failure to thrive, Delayed eruption of teeth	ORPHA:289157
Epilepsy, Progressive Myoclonic, 1B	Tremor, Babinski sign, Dysmetria	OMIM:612437
Trichodermodysplasia-Dental Alterations Syndrome	Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth	ORPHA:3353
Acrodysostosis	Open bite, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Mandibular prognathia	ORPHA:950
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Abnormality of the dentition	ORPHA:1858
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Primary Dystonia, Dyt2 Type	Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener...	ORPHA:99657
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function	OMIM:615362
Autosomal Dominant Spastic Ataxia Type 1	Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T...	ORPHA:251282
Oculodentodigital Dysplasia	Cleft upper lip, Premature loss of teeth, Taurodontia, Cleft palate, Microdontia, Carious teeth, ...	OMIM:164200
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia	OMIM:608105
Johanson-Blizzard Syndrome	Failure to thrive, Abnormality of the dentition, Oligodontia, Delayed eruption of teeth, Microdontia	ORPHA:2315
Spinocerebellar Ataxia Type 12	Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an...	ORPHA:98762
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio...	OMIM:607671
Immunodeficiency 49	Micrognathia, Short philtrum, Natal tooth, Umbilical hernia	OMIM:617237
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Hypertonia, Myoclonus, Anemia	OMIM:610090
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Persistence of primary teeth	OMIM:147060
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Oligodontia, Supernumerary tooth	ORPHA:1264
Hamamy Syndrome	High palate, Wide mouth, Dental malocclusion, Hypodontia, Inguinal hernia, Everted lower lip verm...	OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla, Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia, Thin upper li...	OMIM:618587
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth	OMIM:617337
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk...	ORPHA:314632
49,Xxxxy Syndrome	Taurodontia, Cleft palate, Open bite, Delayed eruption of teeth, Carious teeth, Mandibular progna...	ORPHA:96264
Raine Syndrome	High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro...	OMIM:259775
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Delayed eruption of teeth, Bifid u...	ORPHA:2780
Craniometadiaphyseal Dysplasia	High palate, Malar flattening, Microdontia, Carious teeth, Natal tooth, Dental crowding, Mandibul...	OMIM:269300
Gabriele-De Vries Syndrome	Malar flattening, Abnormality of the dentition, Tremor, Dystonia, Thick lower lip vermilion	OMIM:617557
Malan Syndrome	Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o...	OMIM:614753
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Hypoplasia of teeth, Microdontia, Cleft palate	ORPHA:2728
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti...	OMIM:270500
Helsmoortel-Van Der Aa Syndrome	Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced...	OMIM:615873
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Eruption failure, Narrow mouth, Hypodontia, Micrognathia, De...	OMIM:619322
Lichtenstein-Knorr Syndrome	Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia	OMIM:616291
Melnick-Needles Syndrome	Tooth malposition, Micrognathia, Delayed eruption of teeth, Omphalocele, Craniofacial hyperostosis	ORPHA:2484
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity	OMIM:615768
Pachyonychia Congenita	Failure to thrive, Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Chromosome 13Q33-Q34 Deletion Syndrome	High palate, Gingival overgrowth, Small for gestational age, Micrognathia, Short philtrum, Delaye...	OMIM:619148
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Emanuel Syndrome	High palate, Congenital diaphragmatic hernia, Cleft palate, Inguinal hernia, Micrognathia, Long p...	OMIM:609029
Isolated Cleft Lip	Velopharyngeal insufficiency, Hypodontia, Small for gestational age, Macrodontia, Supernumerary m...	ORPHA:199302
Mandibuloacral Dysplasia	High palate, Dental crowding, Increased adipose tissue around the neck, Lipoatrophy, Micrognathia...	ORPHA:2457
Glut1 Deficiency Syndrome 2	Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosis, Dystonia	OMIM:612126
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Hypodontia, Cleft palate, Micrognathia, Submucous cleft soft palate, Delayed eruption of teeth, W...	ORPHA:1071
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Dystonia 28, Childhood-Onset	Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys...	OMIM:617284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici...	ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Neuromuscular dysphagia, Macrodontia of permanent maxillary central incisor	ORPHA:466722
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft lip and palate, Conical tooth, Carious teeth	ORPHA:1997
Coffin-Siris Syndrome 9	High palate, Everted lower lip vermilion, Short philtrum, Delayed eruption of teeth, Open mouth, ...	OMIM:615866
Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr...	ORPHA:454887
Barber-Say Syndrome	Wide mouth, Failure to thrive, Delayed eruption of teeth	ORPHA:1231
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Hypodontia, Cleft palate, Macrodontia, Vaginal hernia, Mandibular prognathia, Abnormal dental ena...	ORPHA:2916
Eiken Syndrome	Eruption failure, Decreased body weight, Persistence of primary teeth, Short philtrum, Oligodonti...	OMIM:600002
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Rigidity, Dystonia	OMIM:615010
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Hiatus hernia, Umbilical hernia, Dental crowding, Overweight	OMIM:619769
Smith-Magenis Syndrome	Cleft upper lip, Taurodontia, Cleft palate, Micrognathia, Short philtrum, Tented upper lip vermil...	ORPHA:819
Parkinson Disease 22, Autosomal Dominant	Tremor, Bradykinesia, Resting tremor	OMIM:616710
Cleidocranial Dysplasia 1	High palate, Narrow palate, Supernumerary tooth, High, narrow palate, Cleft palate, Malar flatten...	OMIM:119600
Spinocerebellar Ataxia 18	Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia	OMIM:607458
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Glycogen Storage Disease Vi	Hypoglycemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:232700
Coffin-Lowry Syndrome	High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Delayed eruption...	ORPHA:192
Celiac Disease, Susceptibility To, 1	Failure to thrive, Enamel hypoplasia, Stomatitis, Recurrent aphthous stomatitis, Weight loss	OMIM:212750
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth	OMIM:259710
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	High palate, Tented upper lip vermilion, Incisor macrodontia, Abnormality of primary teeth, Thin ...	ORPHA:438216
Cherubism	Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Macular scar, Oligodontia, Jaw swe...	OMIM:118400
Mandibuloacral Dysplasia With Type B Lipodystrophy	High palate, Premature loss of teeth, Narrow mouth, Flexion contracture, Micrognathia, Loss of tr...	OMIM:608612
Autosomal Dominant Hyper-Ige Syndrome	Cellulitis, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Gingivitis	ORPHA:2314
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Micrognathia, Carious teeth...	ORPHA:3253
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Narrow mouth, Narrow palate, Thick lower lip vermilion, Carious teeth	ORPHA:457365
Scarf Syndrome	Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia	OMIM:312830
3M Syndrome	Long philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip ve...	ORPHA:2616
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Malar flattening, Carious teeth	ORPHA:1390
Auriculocondylar Syndrome 1	Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m...	OMIM:602483
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Cleft palate, Malar flattening, Long philtrum, Delayed eruption of teeth...	OMIM:607812
Progressive Supranuclear Palsy-Corticobasal Syndrome	Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu...	ORPHA:240103
Hypophosphatasia, Adult	Chondrocalcinosis, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth	OMIM:146300
Parkinsonism-Dystonia 1, Infantile-Onset	Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par...	OMIM:613135
Frontometaphyseal Dysplasia 1	High palate, Dental malocclusion, Persistence of primary teeth, Cleft palate, Camptodactyly of fi...	OMIM:305620
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Motor stereotypy, Tremor, Ataxia	OMIM:617862
Dysosteosclerosis	High palate, Premature loss of teeth, Micrognathia, Oligodontia, Delayed eruption of teeth, Natal...	OMIM:224300
Dysostosis, Stanescu Type	Tooth agenesis, Macroglossia, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygo...	ORPHA:1798
Orofacial Cleft 15	Palate fistula, Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate	OMIM:616788
Ellis-Van Creveld Syndrome	Cleft upper lip, Abnormality of the alveolar ridges, Hypodontia, Delayed eruption of teeth, Natal...	OMIM:225500
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto...	OMIM:213600
Developmental And Epileptic Encephalopathy 97	Tremor, Stereotypical hand wringing	OMIM:619561
Parkinson Disease 17	Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor	OMIM:614203
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Natal tooth, Cleft palate	OMIM:201050
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Dysphagia, Micrognathia, Ankle flexion contracture, Natal tooth	OMIM:617802
Kilquist Syndrome	Wide mouth, Hypoplasia of teeth, Mandibular prognathia	OMIM:619080
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity	ORPHA:363710
Seckel Syndrome	Cachexia, Micrognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:808
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Inguinal hernia	OMIM:610915
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l...	ORPHA:420485
Autosomal Spastic Paraplegia Type 58	Torticollis, Erratic myoclonus, Hypodontia, Dysmetria, Intention tremor, Babinski sign, Abnormal ...	ORPHA:397946
Orofaciodigital Syndrome I	High palate, Cleft upper lip, Alveolar ridge overgrowth, Microretrognathia, Supernumerary tooth, ...	OMIM:311200
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Polyphagia, Abnormal dental enamel morphology	ORPHA:251004
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Enamel hypoplasia, Microdontia, Truncal obesity	OMIM:210720
Hypophosphatemic Rickets	Failure to thrive, Periapical tooth abscess, Abnormality of the dentition, Craniofacial asymmetry...	ORPHA:437
Spinocerebellar Ataxia 23	Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia	OMIM:610245
Mucopolysaccharidosis Type 4

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