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
decreased fasting circulating glucose level	Itga11^em1(IMPC)H	HOM	Early adult	5.08×10^-07
decreased circulating glucose level	Itga11^em1(IMPC)H	HOM	Early adult	7.09×10^-05
tremors	Itga11^em1(IMPC)H	HOM	Early adult	4.51×10^-05
abnormal tooth morphology	Itga11^em1(IMPC)H	HOM	Early adult	1.44×10^-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 (937 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	Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas...	ORPHA:83450
Dentin Dysplasia, Type I	Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth...	OMIM:125400
Amelogenesis Imperfecta	Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup...	ORPHA:88661
Amelogenesis Imperfecta, Type Ij	Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth	OMIM:617297
Dens In Dente And Palatal Invaginations	Dens in dente, Abnormality of the dentition	OMIM:125300
Dens Evaginatus	Talon cusp, Abnormality of the dentition	OMIM:125280
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	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	Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas...	ORPHA:49042
Taurodontism, Microdontia, And Dens Invaginatus	Microdontia, Dens in dente, Pulp calcification, Taurodontia	OMIM:313490
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification	OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:614832
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal...	OMIM:204700
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Enamel hypoplasia, Carious teeth	OMIM:614564
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Dental Ankylosis	Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis	ORPHA:1077
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla...	ORPHA:2972
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth	ORPHA:2222
Oligodontia	Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ...	ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion	OMIM:612529
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Amelogenesis Imperfecta, Type Ih	Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the...	OMIM:616221
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormality of dental morphology	ORPHA:1653
Ectodermal Dysplasia/Short Stature Syndrome	Enamel hypoplasia, Dysphagia, Hypodontia	OMIM:616029
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental enamel morphology	ORPHA:69087
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79405
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:125490
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Generalized microdontia, Taurodontia	OMIM:104530
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	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Epidermolysis Bullosa, Junctional, Herlitz Type	Enamel hypoplasia, Atrophic scars, Carious teeth, Failure to thrive	OMIM:226700
Fryns Macrocephaly	Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr...	OMIM:600302
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet	Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up...	OMIM:129540
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus	Enamel hypoplasia	OMIM:202900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth	ORPHA:3196
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower...	ORPHA:2025
Fibromatosis, Gingival, With Distinctive Facies	Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar...	OMIM:228560
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth	ORPHA:2026
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted...	ORPHA:2228
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
17Q11.2 Microduplication Syndrome	Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening	ORPHA:139474
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Trichodental Dysplasia	Conical tooth, Odontodysplasia, Hypodontia	OMIM:601453
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Pyle Disease	Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs...	OMIM:265900
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, High palate, Tremor	OMIM:309560
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Laryngoonychocutaneous Syndrome	Amelogenesis imperfecta	OMIM:245660
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia	OMIM:615905
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters	ORPHA:79402
Optic Atrophy 2	Dysdiadochokinesis, Tremor, Babinski sign	OMIM:311050
Pycnodysostosis	Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste...	OMIM:265800
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	Enamel hypoplasia	ORPHA:91133
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Carious teeth, Thick vermilion border	ORPHA:363523
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding	OMIM:600907
Cleft Lip/Palate	Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral ...	ORPHA:199306
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Immunodeficiency 33	Conical tooth, Delayed eruption of teeth, Hypodontia	OMIM:300636
Episodic Ataxia, Type 1	Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign	OMIM:160120
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture	OMIM:203550
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia of the primary teeth, U-Shaped upper lip...	OMIM:234250
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia	OMIM:613227
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi...	ORPHA:3019
Jalili Syndrome	Amelogenesis imperfecta, Carious teeth	OMIM:217080
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel...	OMIM:618386
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown...	OMIM:204650
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy	OMIM:141300
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo...	OMIM:273050
Tremor, Hereditary Essential, 6	Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor	OMIM:616736
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno...	ORPHA:477781
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Oligodontia of primary teeth, No permanent dentition	OMIM:216300
Trichoodontoonychial Dysplasia With Bone Deficiency	Enamel hypoplasia, Anodontia	OMIM:275450
Catifa Syndrome	Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr...	OMIM:618761
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm...	ORPHA:1028
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth, Obesity	OMIM:612463
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Otodental Syndrome	Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup...	ORPHA:2791
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia	OMIM:125350
Atkin-Flaitz Syndrome	Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late...	ORPHA:1193
Sjogren-Larsson Syndrome	Enamel hypoplasia	OMIM:270200
Growth Hormone Insensitivity Syndrome	Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Truncal obesity...	ORPHA:181393
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Enamel hypoplasia, High palate, Mandibular prognathia, Malar flattening	OMIM:600991
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate	OMIM:217150
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Narrow mouth, High palate, Micrognathia, Malar flattening	OMIM:613849
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Increased connective tissue	OMIM:226670
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	OMIM:261560
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical...	ORPHA:98769
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Shagreen patch, Hypodontia	ORPHA:1816
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology	ORPHA:248
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia	OMIM:119540
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Oligodontia, Joint contracture of the 5th finger, Widely-spaced incisors, Conical mandibular inci...	OMIM:601668
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele, Increased body weight, Increased body mass ...	OMIM:614450
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormality of the dentition	OMIM:610967
Localized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc...	ORPHA:251393
Odontochondrodysplasia	Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth	ORPHA:166272
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Slurred speech	ORPHA:401953
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
48,Xyyy Syndrome	Enamel hypoplasia, Long philtrum, Irregularly spaced teeth, High palate, Thick lower lip vermilion	ORPHA:99329
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted lower lip vermilion, Microdontia, Everted upper lip vermilion	ORPHA:181
Lichtenstein Syndrome	Enamel hypoplasia, Carious teeth, Downturned corners of mouth	OMIM:246550
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Carious teeth	OMIM:604922
Glutathionuria	Tremor	OMIM:231950
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia	OMIM:610021
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera...	ORPHA:3352
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, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Carious teeth, Microretrognathia, Pierre-Robin sequence, Tooth agenesis,...	OMIM:618363
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia	ORPHA:401840
Xfe Progeroid Syndrome	Enamel hypoplasia, Cachexia, Absence of subcutaneous fat	OMIM:610965
Hyperinsulinism Due To Glucokinase Deficiency	Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Typ...	ORPHA:79299
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Abnormality of the philtrum, Tooth agenesis, ...	ORPHA:2863
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Otodental Dysplasia	Long philtrum, Pulp calcification, Taurodontia, Hypodontia	OMIM:166750
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Intellectual Disability, Birk-Barel Type	Short philtrum, Open mouth, Congenital finger flexion contractures, Dysphagia, High, narrow palat...	ORPHA:166108
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Spinocerebellar Ataxia 20	Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor	OMIM:608687
Trichodentoosseous Syndrome	Microdontia, Widely spaced teeth, Taurodontia	OMIM:190320
Clark-Baraitser syndrome	Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio...	OMIM:300602
Leukodystrophy, Hypomyelinating, 11	Tremor, Abnormality of the dentition, Ataxia, Spasticity	OMIM:616494
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ...	ORPHA:293964
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Drooling, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia	OMIM:262020
Liang-Wang Syndrome	Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac...	OMIM:618729
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy...	OMIM:601216
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Coffin-Siris Syndrome 10	Wide mouth, Persistence of primary teeth	OMIM:618506
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b...	ORPHA:1946
Leukoencephalopathy with metaphyseal chondrodysplasia	Spastic paraplegia, Tremor, Malar flattening, Babinski sign	OMIM:300660
Parkinsonism With Spasticity, X-Linked	Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity	OMIM:300911
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Drooling, Chorea, Hemiballismus, Frequent falls	ORPHA:494526
Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia	OMIM:226650
Laron Syndrome	Delayed eruption of teeth, Tooth agenesis, Truncal obesity, Microdontia, Micrognathia	ORPHA:633
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio...	OMIM:300431
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Hypoglycemia, Leucine-Induced	Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity	OMIM:240800
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp	OMIM:612843
Hemifacial Hyperplasia	Dental malocclusion, Hypoplasia of the maxilla	OMIM:133900
Tetrasomy 12P	Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ...	ORPHA:884
Mulibrey Nanism	Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Microglossia, Dental...	OMIM:253250
Ameloonychohypohidrotic Syndrome	Abnormal dental enamel morphology, Marked delay in eruption of permanent teeth	OMIM:104570
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dysphagia, Oligodontia, Delayed eruption of teeth, Hypodontia	OMIM:614381
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Dystonia 3, Torsion, X-Linked	Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Cerebellofaciodental Syndrome	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia	OMIM:616202
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ...	ORPHA:263458
Mental Retardation, Autosomal Recessive 6	Involuntary movements, Tremor, Myoclonus	OMIM:611092
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Taurodontism	Taurodontia	OMIM:272700
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ...	ORPHA:2107
Orofaciodigital Syndrome Type 5	Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-...	ORPHA:2919
Oculodentodigital Dysplasia, Autosomal Recessive	Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet...	OMIM:257850
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening, Failure to thrive	OMIM:614727
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
4H Leukodystrophy	Delayed eruption of teeth, Drooling, Dysphagia, Abnormality of the dentition, Hypodontia	ORPHA:289494
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Oligodontia, Short mandibular rami, Prominent frontal sinuses, Antegonial notc...	OMIM:170390
Spinocerebellar Ataxia, Autosomal Recessive 20	Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Camptodactyly, Thick ver...	OMIM:616354
Mental Retardation, Autosomal Dominant 21	Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate	OMIM:615502
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Failure to thrive	OMIM:616353
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Delayed eruption of teeth, Narrow palate, Anodontia, Supernumerary tooth, Failure to thrive, High...	OMIM:264475
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Spinocerebellar Ataxia 43	Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity	OMIM:617018
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Mandibular prognathia, Wide m...	ORPHA:137834
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Babinski sign, Ataxia, Spasticity	OMIM:611105
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Leukoencephalopathy, Brain Calcifications, And Cysts	Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia...	OMIM:614561
Odontomicronychial Dysplasia	Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth	ORPHA:1811
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth, Obesity	OMIM:612462
Acrootoocular Syndrome	Choking episodes, Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Smal...	ORPHA:2980
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Long philtrum, Dental crowding, Wide mouth, High palate	OMIM:618825
48,Xxyy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:10
Cockayne Syndrome Type 2	Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ...	ORPHA:90322
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Enamel hypoplasia, Oligodontia, Scarring alopecia of scalp, Persistence of primary teeth, Microdo...	OMIM:618727
Tooth Agenesis, Selective, X-Linked, 1	Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem...	OMIM:313500
Oculocerebrodental Syndrome	Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Microdontia, Retrognathia	ORPHA:557003
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
X-Linked Non-Syndromic Intellectual Disability	Long philtrum, Delayed eruption of teeth, Drooling, Thin upper lip vermilion, Small for gestation...	ORPHA:777
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Abnormality of the dentition	OMIM:610968
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive	OMIM:612782
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Odontochondrodysplasia 1	Long philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth	OMIM:184260
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora...	ORPHA:952
Developmental And Epileptic Encephalopathy 32	Tremor, Myoclonus, Ataxia	OMIM:616366
Coffin-Siris Syndrome 3	Macroglossia, Wide mouth, Delayed eruption of permanent teeth	OMIM:614608
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Nance-Horan Syndrome	Mulberry molar, Diastema, Supernumerary maxillary incisor, Screwdriver-shaped incisors	OMIM:302350
Corneodermatoosseous Syndrome	Hypomature dental enamel, Abnormality of the dentition	OMIM:122440
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity	ORPHA:217012
Polydactyly, Postaxial, With Dental And Vertebral Anomalies	Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia	OMIM:263540
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth, Obesity	OMIM:103580
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Segawa Syndrome, Autosomal Recessive	Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality...	OMIM:605407
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Oligodontia, Dental crowding, Pierre-Robin sequence, Thick vermilion border, O...	OMIM:619184
Aredyld Syndrome	Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia...	ORPHA:1133
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Delayed eruption of permanent teeth, Dentinogenesis imperfecta, Retrognathia, Prem...	OMIM:619269
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Eem Syndrome	Carious teeth, Abnormality of dental morphology, Selective tooth agenesis, Microdontia, Widely sp...	ORPHA:1897
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Deep philtrum, Diastema, Cleft palate, Microdontia	OMIM:605282
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Taurodontia, Everted lower lip vermilion, Abnormality of the d...	ORPHA:1515
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra...	OMIM:260300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Narrow mouth, Dysphagia, Atrophic scars, Flexion contracture, Corneal scarring	OMIM:226600
Aarskog-Scott Syndrome	Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower lip vermilion, A...	ORPHA:915
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thin vermilion border, Lipoatrophy, Micrognathia, Hypoplasia of the ma...	OMIM:601812
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis	OMIM:618425
Gastrointestinal Defects And Immunodeficiency Syndrome	Enamel hypoplasia, Omphalocele	OMIM:243150
Epidermolysis Bullosa Junctionalis With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita	OMIM:226730
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79411
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Glossop...	OMIM:616367
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Hypodontia, Joint cont...	OMIM:612350
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:1782
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla	OMIM:614188
Craniometaphyseal Dysplasia, Autosomal Recessive	Facial hyperostosis, Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent ...	OMIM:218400
Spinocerebellar Ataxia Type 20	Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp...	ORPHA:101110
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Enamel hypoplasia, Oligodontia, Hypodontia	OMIM:607626
Momo Syndrome	Long philtrum, Delayed eruption of teeth, Taurodontia, Smooth philtrum, High palate, Dental maloc...	OMIM:157980
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Hypodontia	ORPHA:59303
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Abnormality of the mouth, Truncal obesity, Small for gestational age, ...	ORPHA:73272
Three M Syndrome 2	Long philtrum, Delayed eruption of teeth, Thick vermilion border, Small for gestational age, High...	OMIM:612921
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Thick vermilion border	OMIM:601957
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Failure to thrive	OMIM:277440
Rubinstein-Taybi Syndrome 2	Carious teeth, Narrow palate, Retrognathia, Increased overbite, High palate, Dental malocclusion,...	OMIM:613684
Auriculocondylar Syndrome 2	Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G...	OMIM:614669
Blepharophimosis-Impaired Intellectual Development Syndrome	Enamel hypoplasia, Short philtrum, Drooling, Flexion contracture, Wide mouth, Thin upper lip verm...	OMIM:619293
Spastic Ataxia 2, Autosomal Recessive	Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F...	OMIM:611302
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Epilepsy, Progressive Myoclonic 7	Tremor, Myoclonus, Ataxia	OMIM:616187
Short Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Lipoatrophy, Lipodystrophy, Hypodontia, I...	OMIM:269880
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormality of the dentition, Abnormal palate morphology	ORPHA:3270
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening, Obesity	ORPHA:2180
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypoplasia of tee...	ORPHA:50814
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Drooling, Dysphagia, Hypodontia	ORPHA:447896
Mental Retardation, Autosomal Dominant 55, With Seizures	Tremor, Gait ataxia	OMIM:617831
Temple-Baraitser Syndrome	Long philtrum, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, Wide mouth, Te...	ORPHA:420561
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Shovel-shaped maxillary central incisors, Open mouth, Dental crowding	OMIM:600906
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity	ORPHA:401901
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Abnormality of canine, Abnormality of t...	ORPHA:363417
Qazi-Markouizos Syndrome	Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, High, narrow palate	ORPHA:3010
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Carious teeth, Flexion contracture, Hypodontia	OMIM:612079
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Brachydactyly, Type B1	Joint contracture of the hand, Camptodactyly, Delayed eruption of permanent teeth	OMIM:113000
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental morphology	ORPHA:1458
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive	OMIM:264700
Momo Syndrome	Long philtrum, Delayed eruption of teeth, Taurodontia, Large for gestational age, Smooth philtrum...	ORPHA:2563
Char Syndrome	Short philtrum, Everted lower lip vermilion, Thick vermilion border, Persistence of primary teeth...	ORPHA:46627
Amelogenesis Imperfecta, Type Ig	Delayed eruption of permanent teeth, Amelogenesis imperfecta, Dagger-shaped pulp calcifications, ...	OMIM:204690
Oculofaciocardiodental Syndrome	Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol...	ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia	OMIM:617950
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Overweight,...	OMIM:619229
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis	OMIM:150400
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Hypoglycemia	OMIM:616113
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone	ORPHA:3145
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Osteoglosphonic Dysplasia	Failure to thrive in infancy, Tooth agenesis, Inguinal hernia, Micrognathia, Multiple unerupted t...	ORPHA:2645
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition	ORPHA:3238
Ohdo Syndrome	Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Smooth philtrum, Microgn...	OMIM:249620
Seckel Syndrome 1	Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, High palate, Dental m...	OMIM:210600
Paralysis Agitans, Juvenile, Of Hunt	Tremor, Parkinsonism, Rigidity, Bradykinesia	OMIM:168100
Cohen Syndrome	Short philtrum, Open mouth, Macrodontia of permanent maxillary central incisor, Small for gestati...	OMIM:216550
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Bone Marrow Failure Syndrome 3	Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Hernia, Failure to thrive, Microdontia, M...	OMIM:617052
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia	ORPHA:3214
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor	OMIM:614369
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Inguinal hernia, Micrognathia, Malar flattening	OMIM:613848
Epilepsy, Progressive Myoclonic, 1B	Tremor, Babinski sign, Dysmetria	OMIM:612437
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Umbilical hernia, Inguinal hernia, Hypocalcification of dental ...	ORPHA:3134
Spinocerebellar Ataxia, Autosomal Recessive 4	Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity	OMIM:607317
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,...	ORPHA:411593
Teeth, Supernumerary	Mesiodens, Supernumerary tooth	OMIM:187100
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit...	ORPHA:1031
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	High palate, Mandibular prognathia, Small for gestational age, Advanced eruption of teeth	OMIM:262190
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Camptodactyly of finger, Persistence of primary teeth, Wrist flexion c...	OMIM:305620
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Adult Neuronal Ceroid Lipofuscinosis	Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia...	ORPHA:79262
Parkinson Disease 17	Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity	OMIM:614203
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Branchioskeletogenital Syndrome	Thin vermilion border, Carious teeth, Short philtrum, Downturned corners of mouth, Mandibular pro...	ORPHA:1299
48,Xxxy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:96263
Lichtenstein-Knorr Syndrome	Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria	OMIM:616291
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B...	ORPHA:98762
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Trichorhinophalangeal Syndrome, Type I	Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Deep philtrum, Thin upper...	OMIM:190350
Chst3-Related Skeletal Dysplasia	Long philtrum, Flexion contracture, Delayed eruption of teeth	ORPHA:263463
Hypophosphatasia, Childhood	Premature loss of primary teeth, Carious teeth	OMIM:241510
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Cockayne Syndrome Type 1	Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ...	ORPHA:90321
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia, Failure to thrive	OMIM:614576
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign	OMIM:615362
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Fasting hypoglycemia, Tremor, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypogl...	ORPHA:276608
Parkinson Disease 22, Autosomal Dominant	Tremor, Resting tremor, Bradykinesia	OMIM:616710
Oculotrichodysplasia	Carious teeth, Microdontia of primary teeth, Agenesis of permanent teeth, Widely spaced primary t...	OMIM:257960
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Oligodontia, Natal tooth, Hypodontia	OMIM:601345
Raine Syndrome	Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal...	OMIM:259775
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Short philtrum, Narrow palate, Open mouth, Mandibular prognathia, Thick vermilion ...	ORPHA:364028
Parkinson Disease 19A, Juvenile-Onset	Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity	OMIM:615528
Migraine, Familial Hemiplegic, 1	Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, Inguinal hernia, Retr...	ORPHA:2409
Camptodactyly Syndrome, Guadalajara Type 1	Open bite, Camptodactyly of finger, Narrow mouth, Downturned corners of mouth, Mandibular prognat...	ORPHA:1327
Dystonia 27	Postural tremor, Action tremor	OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity	OMIM:615768
Dystonia, Dopa-Responsive	Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism...	OMIM:128230
Cleidocranial Dysplasia	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula...	ORPHA:1452
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Spastic tetraparesis, Hypoglycemia	ORPHA:67046
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Delayed eruption of teeth, Failure to thrive	ORPHA:289157
X-Linked Hypophosphatemia	Cellulitis, Abnormal dentin morphology, Tooth abscess, Odontodysplasia, Enthesitis	ORPHA:89936
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Tooth agenesis, Inguinal hernia, Congenital diaphragma...	ORPHA:2063
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp...	OMIM:270500
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Tremor, Drooling, Excessive salivation, Abnormality of the dentition, Ataxia, Spastic gait, Parki...	OMIM:300055
Pycnodysostosis	Delayed eruption of teeth, Narrow palate, Abnormality of dental morphology, Abnormality of the de...	ORPHA:763
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Supernumerary tooth, Abnormality of dental morphology, Tooth agenesis	ORPHA:3353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Long philtrum, Oligodontia, Short philtrum, Hypoplasia of teeth, Narrow mouth, Downturned corners...	ORPHA:391408
Emanuel Syndrome	Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Dysphagia, Submucou...	ORPHA:96170
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Ataxia, Intention tremor	OMIM:302500
Short Syndrome	Abnormal dental enamel morphology, Abnormality of the zygomatic bone, Lipodystrophy, Abnormality ...	ORPHA:3163
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Persistence of primary teeth	OMIM:147060
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Excessive salivation, Hypertonia, Myoclonus, Choreoathetosis	OMIM:261630
Myoclonic-Atonic Epilepsy	Tremor, Eyelid myoclonus, Ataxia	OMIM:616421
Acrodysostosis	Open bite, Delayed eruption of teeth, Open mouth, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:950
Sotos Syndrome 2	Everted lower lip vermilion, Mandibular prognathia, Advanced eruption of teeth, Narrow mouth	OMIM:614753
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Trisomy 4P	Camptodactyly of finger, Carious teeth, Abnormal palate morphology, Smooth philtrum, Abnormality ...	ORPHA:1738
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Ataxia, Spasticity	OMIM:614307
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria	OMIM:607458
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Leukoencephalopathy, Progressive, With Ovarian Failure	Tremor, Apraxia, Ataxia, Spasticity	OMIM:615889
Oculodentodigital Dysplasia	Enamel hypoplasia, Carious teeth, Taurodontia, Joint contracture of the 5th finger, Selective too...	OMIM:164200
X-Linked Non Progressive Cerebellar Ataxia	Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ...	ORPHA:314978
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla, Gait ataxia, Tremor, Truncal ataxia, Chorea, Thin upper lip vermilion...	OMIM:618587
Temtamy Syndrome	Long philtrum, Micrognathia, Hypoplasia of teeth, Dental crowding	OMIM:218340
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Wide mouth, Abnormality of the dentition, Failure to thrive, Bifid uvula	OMIM:615802
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Abnormality of the dentition, Supernumerary tooth	ORPHA:1264
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Retrognathia, Cleft palate, Bifid uvula, Facial hyperostosis, High, na...	ORPHA:2780
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hypoplasia of teeth, Narrow mouth, Dental crowding, Flexion contracture, Loss of subcutaneous adi...	OMIM:608612
Craniometadiaphyseal Dysplasia	Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, High palate, Microdontia, Mal...	OMIM:269300
Immunodeficiency 49	Micrognathia, Short philtrum, Natal tooth, Umbilical hernia	OMIM:617237
Riboflavin Deficiency	Hypoglycemia	OMIM:615026
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor	OMIM:615048
Sener Syndrome	Natal tooth, Smooth philtrum, Wide mouth, Hypodontia, Umbilical hernia, Inguinal hernia, High pal...	OMIM:606156
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa...	ORPHA:251282
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Failure to thrive, Microdontia	ORPHA:2315
Helsmoortel-Van Der Aa Syndrome	Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, Smooth philtrum, Wide mou...	OMIM:615873
Barber-Say Syndrome	Delayed eruption of teeth, Thin vermilion border, Mandibular prognathia, Wide mouth, High palate,...	OMIM:209885
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate	ORPHA:2728
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Short philtrum, Open mouth, Camptodactyly, Tented upper lip vermilion,...	OMIM:619148
Autosomal Recessive Spastic Paraplegia Type 77	Neuromuscular dysphagia, Retrognathia, Macrodontia of permanent maxillary central incisor, Impair...	ORPHA:466722
Isolated Cleft Lip	Macrodontia, Non-midline cleft lip, Hypodontia, Umbilical hernia, Supernumerary maxillary incisor...	ORPHA:199302
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Parkinsonism, Rigidity, Bradykinesia	OMIM:600116
49,Xxxxy Syndrome	Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont...	ORPHA:96264
Primary Dystonia, Dyt13 Type	Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements	ORPHA:98807
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth	OMIM:617337
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Emanuel Syndrome	Long philtrum, Delayed eruption of primary teeth, Dental crowding, Broad jaw, Inguinal hernia, Co...	OMIM:609029
Teebi Hypertelorism Syndrome	Long philtrum, Natal tooth, Omphalocele, Dental crowding	OMIM:145420
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Clumsiness, Chorea, Tongue atrophy, Abnormal pyramidal sign, Parkinsonism, Upper motor ne...	ORPHA:216873
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Spinocerebellar Ataxia, Autosomal Recessive 17	Tremor, Truncal ataxia, Dysmetria	OMIM:616127
Orofaciodigital Syndrome I	Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Microretrognathia,...	OMIM:311200
Cleidocranial Dysplasia	Enamel hypoplasia, Delayed eruption of primary teeth, Narrow palate, Absent frontal sinuses, Hypo...	OMIM:119600
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus	ORPHA:363710
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis	OMIM:159900
Glycogen Storage Disease Ixa1	Hypoglycemia	OMIM:306000
Intellectual Developmental Disorder, X-Linked 104	Tremor, Ataxia, High palate, Retrognathia, Spasticity	OMIM:300983
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Narrow mouth, Smooth philtrum, Hypodontia, Eruption failure, R...	OMIM:619322
Melnick-Needles Syndrome	Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Omphalocele, Micrognathia	ORPHA:2484
Mehmo Syndrome	Long philtrum, Gait ataxia, Drooling, Open mouth, Spastic tetraparesis, Hypoglycemia, Cleft lip, ...	OMIM:300148
Kilquist Syndrome	Wide mouth, Xerostomia, Mandibular prognathia, Hypoplasia of teeth	OMIM:619080
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Mandibuloacral Dysplasia	Abnormal tongue morphology, Increased intraabdominal fat, Hypoplasia of teeth, Dental crowding, I...	ORPHA:2457
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Failure to thrive	ORPHA:1231
Hypophosphatasia, Adult	Premature loss of primary teeth, Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis	OMIM:146300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki...	ORPHA:314632
Spinocerebellar Ataxia 23	Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria	OMIM:610245
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular prognathia, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Auriculocondylar Syndrome 1	Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc...	OMIM:602483
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft lip and palate	ORPHA:1997
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ver...	ORPHA:438216
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Inguinal hernia, Umbilical hernia	OMIM:312830
Eiken Syndrome	Short philtrum, Oligodontia, Persistence of primary teeth, Decreased body weight, Eruption failur...	OMIM:600002
Cherubism	Macular scar, Oligodontia, Narrow palate, Jaw swelling, Alveolar ridge overgrowth, Multiple impac...	OMIM:118400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Stereotypy, Tremor, Ataxia	OMIM:617862
Coffin-Lowry Syndrome	Delayed eruption of teeth, Narrow palate, Advanced eruption of teeth, Abnormality of dental morph...	ORPHA:192
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Stomatitis, Weight loss, Failure to thrive, Recurrent aphthous stomatitis	OMIM:212750
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi...	ORPHA:1071
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Cellulitis, Abnormality of the dentition, Cleft palate, Gingivitis	ORPHA:2314
Osteopetrosis With Renal Tubular Acidosis	Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Failure to thrive, Dental...	ORPHA:2785
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus	OMIM:600363
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, Hypodontia, Cleft palate, Vaginal herni...	ORPHA:2916
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity	OMIM:615924
Pachyonychia Congenita	Oral leukoplakia, Natal tooth, Angular cheilitis, Failure to thrive, Advanced eruption of teeth	ORPHA:2309
Spinocerebellar Ataxia Type 14	Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity	ORPHA:98763
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Myoclonus, Hypoglycemia	OMIM:610090
Neurodegeneration With Brain Iron Accumulation 8	Dysmetria, Tremor, Ataxia	OMIM:617917
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Bilateral cle...	ORPHA:3253
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Autosomal Spastic Paraplegia Type 58	Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Hypodont...	ORPHA:397946
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypodontia, Cleft upper lip, Abnormality of the alveolar ...	OMIM:225500
3M Syndrome	Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve...	ORPHA:2616
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Natal tooth, Cleft palate	OMIM:201050
Neonatal Hemochromatosis	Micrognathia, Hypoglycemia	ORPHA:446
Pachyonychia Congenita 2	Natal tooth	OMIM:167210
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Abnormal palate morphology, Malar flattening	ORPHA:1390
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Dysosteosclerosis	Delayed eruption of teeth, Oligodontia, Absent frontal sinuses, Natal tooth, High palate, Microgn...	OMIM:224300
Combined Oxidative Phosphorylation Deficiency 45	High palate, Tremor, Ataxia	OMIM:618951
Dysostosis, Stanescu Type	Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnormal palate morphology, Abnor...	ORPHA:1798
Smith-Magenis Syndrome	Delayed eruption of primary teeth, Short philtrum, Open mouth, Taurodontia, Mandibular prognathia...	ORPHA:819
Spinocerebellar Ataxia, X-Linked 4	Tremor, Abnormal pyramidal sign, Ataxia	OMIM:301840
Gabriele-De Vries Syndrome	Tremor, Thick lower lip vermilion, Malar flattening, Abnormality of the dentition	OMIM:617557
Progressive Supranuclear Palsy-Corticobasal Syndrome	Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A...	ORPHA:240103
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Macroglossia, Flexion contracture, Umbilical hernia, Inguinal hernia, ...	OMIM:309900
Behr Syndrome	Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity	OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 2	Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity	OMIM:213200
Endocardial Fibroelastosis	Abnormal palate morphology, Micrognathia, Hypoglycemia	ORPHA:2022
Orofaciodigital Syndrome Type 2	Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ...	ORPHA:2751
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,...	ORPHA:2909
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Choreoathetosis, Excessive salivation, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Ri...	OMIM:261640
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Oslam Syndrome	Carious teeth	ORPHA:2760
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Polyphagia, Obesity

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