Gene Summary

Name:
integrin alpha 11
Synonyms:
4732459H24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
tremors Itga11em1(IMPC)H HOM   Early adult 3.87×10-05
decreased fasting circulating glucose level Itga11em1(IMPC)H HOM Early adult 4.85×10-07
decreased spleen weight Itga11em1(IMPC)H HOM   Early adult 8.33×10-06
decreased circulating glucose level Itga11em1(IMPC)H HOM Early adult 6.35×10-05
abnormal tooth morphology Itga11em1(IMPC)H HOM Early adult 1.14×10-15

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
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