Gene: Itga11 MGI:2442114

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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
decreased fasting circulating glucose level Itga11em1(IMPC)H HOM Early adult 5.08×10-07
decreased circulating glucose level Itga11em1(IMPC)H HOM Early adult 7.09×10-05
tremors Itga11em1(IMPC)H HOM   Early adult 4.51×10-05
abnormal tooth morphology Itga11em1(IMPC)H HOM Early adult 1.44×10-15

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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
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