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Gene: Itga11 MGI:2442114

Gene Summary

Name:

integrin alpha 11

Synonyms:

4732459H24Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased spleen weight	Itga11^em1(IMPC)H	HOM	Early adult	5.80×10^-06
abnormal tooth morphology	Itga11^em1(IMPC)H	HOM	Early adult	1.14×10^-15
decreased fasting circulating glucose level	Itga11^em1(IMPC)H	HOM	Early adult	2.76×10^-07
tremors	Itga11^em1(IMPC)H	HOM	Early adult	3.84×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Itga11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Itga11 (0 diseases)
Human diseases predicted to be associated with Itga11 (871 diseases)

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

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

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
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, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia, High palate	OMIM:309560
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79402
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
48,Xyyy Syndrome	Impulsivity, Aggressive behavior, Thick lower lip vermilion, Irregularly spaced teeth, High palat...	ORPHA:99329
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612463
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti...	OMIM:618825
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Increased body weight, Macrogl...	OMIM:614450
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight, Microdontia, Serrated i...	OMIM:272440
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Rubinstein-Taybi Syndrome 2	Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ...	OMIM:613684
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia...	OMIM:618342
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open ...	OMIM:619356
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Tooth agenesis, Truncal obesity, Microdontia	ORPHA:633
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity d...	OMIM:618205
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition	ORPHA:289494
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Taurodontism	Taurodontia	OMIM:272700
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi...	ORPHA:137834
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Failure to thrive, Amelogenesis imperfecta	OMIM:614727
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation	OMIM:272300
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Micrognathia, Carious te...	OMIM:214150
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Inguinal hernia, Hyperactivity, Thick lower lip vermilion, Cleft palat...	OMIM:614607
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Hand tremor, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperin...	ORPHA:79299
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ...	ORPHA:915
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Small for gestational age, Micrognathia, Truncal obesit...	ORPHA:73272
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er...	OMIM:614608
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Atrophic scars, Narrow m...	OMIM:226600
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612462
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Decreased body weight, Umbilical hernia, Dentinogenesis imperfecta, Long p...	OMIM:614856
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi...	OMIM:619269
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Oligodontia, Thi...	OMIM:619184
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ...	OMIM:157980
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E...	OMIM:617865
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:103580
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H...	OMIM:612350
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Aggressive behavior, Narrow palate, Short upper lip, Thick ...	ORPHA:364028
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Thick vermilion border...	OMIM:612921
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Failure to t...	OMIM:615802
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Stereotypical hand wringing, Dysph...	OMIM:619229
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	ORPHA:447896
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Intellectual Developmental Disorder, Autosomal Recessive 39	Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior	OMIM:615541
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Seckel Syndrome 1	Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbo...	OMIM:210600
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, ...	ORPHA:216873
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Carious teeth	OMIM:277440
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Immunodeficiency 9	Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening	ORPHA:2180
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Aggressive behavior, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short...	OMIM:620250
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Brachydactyly, Type B1	Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly	OMIM:113000
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Failure to thrive, Conical tooth	OMIM:617475
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Osteoglosphonic Dysplasia	Inguinal hernia, Failure to thrive in infancy, Micrognathia, Tooth agenesis, Multiple unerupted t...	ORPHA:2645
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Cohen Syndrome	Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short ph...	OMIM:216550
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive	OMIM:264700
Temtamy Syndrome	Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mutilation	OMIM:218340
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Intellectual Developmental Disorder, Autosomal Recessive 14	Narrow palate, Intention tremor	OMIM:614020
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate, Small for gestational age	OMIM:262190
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Enamel hypoplasia, Retrognathia	OMIM:614576
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption...	ORPHA:819
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Premature loss of teeth, Failure to thri...	OMIM:610965
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, Hyperplasia of ...	OMIM:618587
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Flexion contracture, Long philtrum	ORPHA:263463
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Lowry-Maclean Syndrome	Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small ...	OMIM:619148
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Bone Marrow Failure Syndrome 3	Hyperactivity, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdo...	OMIM:617052
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Short Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age...	OMIM:269880
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental...	ORPHA:1327
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Hypodontia, Limb dystonia	OMIM:620270
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi...	ORPHA:96170
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Small for gestational age, Micrognathia, Hypopla...	ORPHA:391408
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro...	ORPHA:2063
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Failure to thrive	ORPHA:2315
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive	ORPHA:289157
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b...	OMIM:610253
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia	ORPHA:2309
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent...	ORPHA:73223
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa...	OMIM:619322
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ...	OMIM:616719
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Neuromuscular dysphagia	ORPHA:466722
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Celiac Disease, Susceptibility To, 1	Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia, Failure to thrive	OMIM:212750
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Umbilical hernia	OMIM:619769
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, Aggressive behavior, High, n...	ORPHA:369950
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Tooth malposition	ORPHA:2484
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch...	OMIM:301310
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Abnormal repetitive mannerisms	OMIM:617802
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Leukodystrophy, Hypomyelinating, 11	Ataxia, Abnormality of the dentition, Tremor, Myoclonus, Spasticity	OMIM:616494
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypog...	ORPHA:276608
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, High palate, Spasticity, Retrognathia	OMIM:300983
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Emanuel Syndrome	Broad jaw, Inguinal hernia, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Con...	OMIM:609029
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth	OMIM:146300
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis	ORPHA:2314
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Mandibular prognathia, Long philtrum	OMIM:616269
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur...	ORPHA:476126
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ...	OMIM:616202
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
X-Linked Dystonia-Parkinsonism	Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blephar...	ORPHA:53351
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,...	OMIM:305620
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Scarf Syndrome	Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum	OMIM:312830
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Narrow palate, Conical incisor, Ol...	OMIM:235510
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia	OMIM:612079
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Cachexia, Micrognathia	ORPHA:808
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology, Obesity	ORPHA:251004
Oslam Syndrome	Carious teeth	ORPHA:2760
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Selectiv...	ORPHA:2909
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Truncal obesity, Enamel hypoplasia, Retrognathia	OMIM:210720
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Lead Poisoning	Delayed eruption of teeth, Attention deficit hyperactivity disorder, Small for gestational age, A...	ORPHA:330015
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Long philtrum...	ORPHA:85201
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Eclabion	OMIM:616395
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Large for gestational age, Thick lowe...	ORPHA:261652
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Failure to thr...	OMIM:247200
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia	OMIM:616353
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight	OMIM:266270
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch	ORPHA:2617
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia, Obesity	ORPHA:79444
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Thick lower lip vermilion, Flexion contracture, Macro...	OMIM:309900
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia, Failure to thrive	ORPHA:79396
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Large for gestation...	ORPHA:77301
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern...	OMIM:268400
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Aggressive behavior, Carious teeth, Pica, Obesity, High palate, Long ph...	OMIM:620191
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma...	OMIM:101800
Crigler-Najjar Syndrome Type 1	Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Failure to thrive	OMIM:612714
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Abnormality of the dentition, Th...	ORPHA:3071
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr...	OMIM:601701
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Failure to thrive, Lipoatrophy, Microgn...	OMIM:601812
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221008
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contr...	ORPHA:96092
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyramidal sig...	ORPHA:363400
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth...	OMIM:301072
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas...	ORPHA:199276
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Immunodeficiency 49	Natal tooth, Umbilical hernia, Short philtrum, Micrognathia	OMIM:617237
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myoclonus, Limb myoclonus, Frequent falls	ORPHA:2590
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221016
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
De Barsy Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Narrow mouth, High palate, Small, coni...	ORPHA:2962
Dubowitz Syndrome	Delayed eruption of teeth, Inguinal hernia, Hyperactivity, Micrognathia, Carious teeth, Velophary...	OMIM:223370
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C...	ORPHA:534
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Aggressive behavio...	OMIM:617799
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Small for gestational ag...	ORPHA:666
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia, Obesity	ORPHA:79443
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn...	ORPHA:353281
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Treacher-Collins Syndrome	Branchial fistula, Failure to thrive, Abnormal dental morphology, Abnormal dental enamel morpholo...	ORPHA:861
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor	OMIM:614307
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop...	OMIM:166250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia	OMIM:617916
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Inguinal hernia, Cleft palate	OMIM:272460
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Oligodontia, Hypodontia, Dystonia, Spa...	OMIM:607694
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Sotos Syndrome	Mandibular prognathia, Aggressive behavior, High, narrow palate, Narrow jaw, Narrow palate, Incre...	OMIM:117550
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandibl...	ORPHA:2215
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodon...	OMIM:300867
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor	OMIM:610185
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Violent behavior, Inguinal hernia, Large for gestational age, Cleft li...	OMIM:280000
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro...	OMIM:272430
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Spastic para...	OMIM:300055
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Thick lo...	ORPHA:1465
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Camurati-Engelmann Disease	Delayed eruption of teeth, Anorexia, Cachexia, Carious teeth, Abnormal subcutaneous fat tissue di...	ORPHA:1328
Hypermanganesemia With Dystonia 1	Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio...	OMIM:613280
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:122470
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow...	OMIM:135500
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Micrognathia, Cleft palate, Too...	OMIM:309350
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Robinow Syndrome	Dental crowding, Small for gestational age, Persistence of primary teeth, Micrognathia, Dental ma...	ORPHA:97360
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Hypertonia, Short philtrum, Everted lower lip vermilion, Long philtrum, Retrognathia	OMIM:619556
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Panniculitis, Gingival overgrowth	ORPHA:508542
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Hypertonia, Widely spaced teeth, Myoclonus, Retrognathia	OMIM:619092
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den...	OMIM:180700
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Incontinentia Pigmenti	Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Long philtrum, Hypertoni...	OMIM:617710
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Micrognathia	ORPHA:93346
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Carpenter Syndrome 1	Omphalocele, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Agen...	OMIM:201000
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Aggressive behavior, Corneal scarring, Keloids, Ename...	OMIM:309000
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur...	OMIM:620107
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Hallermann-Streiff Syndrome	Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Micrognathia, Hi...	OMIM:234100
Johnson Neuroectodermal Syndrome	Carious teeth, Failure to thrive, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Carious teeth, Flexion contracture, Macroglossia, Umb...	OMIM:253200
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Inguinal hernia, Small for gestational age, Abnormality of the dentitio...	ORPHA:363611
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Small for gestational age, Delayed er...	OMIM:133540
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Micrognat...	OMIM:268310
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Attention deficit hyperactivity disorder, Shagreen patch	OMIM:191100
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted te...	OMIM:311300
Myopathy With Extrapyramidal Signs	Hepatomegaly, Tented upper lip vermilion, Ataxia, Clonus, Tremor, Splenomegaly, Chorea, Leukocyto...	OMIM:615673
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Anorexia, Weight loss	ORPHA:79430
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance...	OMIM:615873
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Thick ...	ORPHA:404448
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d...	ORPHA:769
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Aceruloplasminemia	Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, T...	ORPHA:48818
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ...	ORPHA:2750
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer, Failure to thrive	ORPHA:811
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long p...	OMIM:278250
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Narrow palate,...	OMIM:616505
Pitt-Hopkins Syndrome	Hiatus hernia, Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion border, ...	ORPHA:2896
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet...	ORPHA:2250
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess, Enthesitis	ORPHA:289176
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353277
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Wrinkly Skin Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con...	ORPHA:2834
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl...	OMIM:619503
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Natal tooth, Failure to thrive, Paranasal sinus hypoplasia, Dental crowding, Microgn...	OMIM:300373
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Ane Syndrome	Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth	ORPHA:157954
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien...	ORPHA:363444
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Cong...	ORPHA:2092
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Inguinal hernia, Failure to thrive in infancy, Micrognathia, Abnormali...	ORPHA:798
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ...	OMIM:618056
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Failure to thrive, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Micrognathia, Tremor, Thrombocytopenia, Trismus, Neutropenia, Opisthotonus, Choreoathetos...	OMIM:616271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis, Failur...	ORPHA:79259
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Oculopharyngodistal Myopathy 4	Tremor, High palate, Postural tremor	OMIM:619790
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Cleft lip, Hypoplastic facial b...	OMIM:616300
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ...	OMIM:618371
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Reduced subcutaneous adipose tissue, Lipoatrophy, Small f...	OMIM:264090
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tremor, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, ...	ORPHA:263455
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Flexion contracture, Dysphagia	ORPHA:220393
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia	OMIM:208920
Focal Dermal Hypoplasia	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Um...	OMIM:230740
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth	ORPHA:667
Distal Duplication 5Q	Micrognathia, Carious teeth, Thin vermilion border, Hernia, Narrow mouth, Long philtrum	ORPHA:96097
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Dysphagia, Down...	OMIM:616268
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:135900
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cleft l...	ORPHA:2745
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Cornelia De Lange Syndrome	Delayed eruption of teeth, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Downturne...	ORPHA:199
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Sinusitis, Tremor, Decreased proportion of CD4-positive helper T cells...	OMIM:208900
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thic...	ORPHA:2785
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Hypoplastic spleen	ORPHA:89844
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Camptodactyly of finger, Flexion contracture, High palate, Widely spac...	OMIM:143095
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Carious teeth, Slender build	OMIM:131300
Proximal Renal Tubular Acidosis	Failure to thrive, Polydipsia, Enamel hypomineralization	ORPHA:47159
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopeni...	OMIM:613179
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria	OMIM:615578
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Small for gestational age, Hypoplasia of the nas...	ORPHA:93357
12Q14 Microdeletion Syndrome	Diabetes mellitus, Micrognathia, Tremor, Abnormality of the spleen, Downturned corners of mouth, ...	ORPHA:94063
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Kindler Syndrome	Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leukoplakia	OMIM:173650
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia	OMIM:224230
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Floating-Harbor Syndrome	Restlessness, Small for gestational age, Impulsivity, Persistence of primary teeth, Hypoplasia of...	ORPHA:2044
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ...	ORPHA:1519
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy...	ORPHA:1578
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Lobulated tongu...	OMIM:269860
Bloom Syndrome	Malar flattening, Small for gestational age, Agenesis of maxillary lateral incisor	OMIM:210900
Tetrasomy 9P	Hyperactivity, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, M...	ORPHA:3310
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Tetanus	Tremor, Rigidity, Trismus, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles	ORPHA:3299
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormal primary molar morphology, Hypodontia, Microdontia, Failure to...	ORPHA:1830
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Dysphagia	OMIM:606170
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, Type II diabetes mellitus, Chole...	ORPHA:79095
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,...	OMIM:214500
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Fasting hypoglyce...	ORPHA:25
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognath...	ORPHA:2556
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor	ORPHA:713
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Mirage Syndrome	Hypoglycemia, Thrombocytopenia, Paraplegia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia...	OMIM:619841
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Narrow mouth, Babinski sign, Glucose intolerance, Hypertonia, Ci...	OMIM:616539
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Omphalocele, Tented upper lip vermilion, Ing...	OMIM:601803
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Prolonged...	OMIM:615512
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogeusia	OMIM:201100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ...	OMIM:606002
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Mic...	OMIM:249000
Tyrosinemia Type 2	Tremor, Malar flattening, Ataxia	ORPHA:28378
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the dentition, Aggres...	ORPHA:821
Williams Syndrome	Micrognathia, Compulsive behaviors, Microdontia, Abnormal dental morphology, Abnormal dental enam...	ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilit...	ORPHA:2273
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Micrognathia, Submucous cleft hard palate, Temporomandibular...	OMIM:275210
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma...	ORPHA:646
Restrictive Dermopathy	Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Submucous cleft ...	ORPHA:1662
Pearson Syndrome	Reticulocytosis, Hepatomegaly, Diabetes mellitus, Ataxia, Pancytopenia, Pancreatic fibrosis, Medi...	ORPHA:699
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Proteus Syndrome	Abnormal dental enamel morphology, Cachexia, Carious teeth, Abnormal subcutaneous fat tissue dist...	ORPHA:744
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Natal tooth, Thin upper lip vermilion, Failure to thrive, Li...	ORPHA:3455
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Inguinal hernia, Accessory oral frenulum, Large for gestational a...	ORPHA:672
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen, Micrognathia	OMIM:601186
Johanson-Blizzard Syndrome	Small for gestational age, Agenesis of permanent teeth, Downturned corners of mouth, Long philtru...	OMIM:243800
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Orofacial cleft, Agen...	OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itga11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itga11.

No publications found that use IMPC mice or data for Itga11.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Itga11^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Itga11^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Itga11^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Itga11^em1(IMPC)H	Exon Deletion	Mice
Itga11^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Itga11^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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