Gene Summary

Name:
OTU domain containing 7A
Synonyms:
Cezanne 2 protein,  Otud7

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Otud7aem1(IMPC)Bay HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

X-ray

XRay Images Forepaw

6 Images

Human diseases caused by Otud7a mutations

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

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

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

The table below shows human diseases predicted to be associated to Otud7a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Gait ataxia, Tru... OMIM:618587
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Gait ataxia, Generalized n... OMIM:617831
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Choreoathetosis, Ataxia, Paresthesia, Chorea, Generalized non-motor (... ORPHA:98811
Developmental And Epileptic Encephalopathy 6B
Narrow mouth, Myoclonic seizure, Tonic seizure, Dystonia, Choreoathetosis, Focal hemiclonic seizu... OMIM:619317
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Myoclonus, Tremor OMIM:614018
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Ataxia, Abnormality of the dentition, Seizure, ... ORPHA:2026
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Dystonia, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence s... ORPHA:725
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia, Ataxia, Multifocal seizures, Stat... OMIM:615905
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia, Tremor OMIM:616421
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Liang-Wang Syndrome
Dystonia, Everted lower lip vermilion, Status epilepticus, Ataxia, Macroglossia, Macrodontia of p... OMIM:618729
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, At... ORPHA:36387
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Hemifacial Atrophy, Progressive
Tongue atrophy, Delayed eruption of teeth, Ataxia, Dental malocclusion, Seizure, Short mandibular... OMIM:141300
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Developmental And Epileptic Encephalopathy 56
Action tremor, Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic se... OMIM:617665
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Fatigable weakness, Abnormal dental enamel morphology,... ORPHA:2325
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Juvenile Myoclonic Epilepsy
Abnormality of the mouth, Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile... ORPHA:307
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Atonic seizure, Generalized myoclonic s... ORPHA:2590
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Episodic Ataxia, Type 5
Atypical absence seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 years), ... OMIM:613855
4H Leukodystrophy
Dysmetria, Dystonia, Drooling, Delayed eruption of teeth, Hypodontia, Ataxia, Progressive gait at... ORPHA:289494
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Neurodevelopmental Disorder With Hearing Loss And Spasticity
High palate, Myoclonic seizure, Dystonia, Thick upper lip vermilion, Focal-onset seizure, Microgn... OMIM:619616
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Myoclonic absence seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-cloni... OMIM:617836
Fibromatosis, Gingival, With Distinctive Facies
High palate, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption of permanent te... OMIM:228560
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Gait ataxia, Non-convulsive status epilepticus... ORPHA:98818
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Juvenile Absence Epilepsy
Abnormality of the mouth, Generalized-onset seizure, Febrile seizure (within the age range of 3 m... ORPHA:1941
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Chorea, Generalized-onse... ORPHA:79137
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Dystonia, Atonic seizure, Focal motor seizure, Oculogyric crisis, Generalized-o... ORPHA:178469
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:615744
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Gingival fibromatosis, Everted lower lip vermilion, Exagg... ORPHA:2025
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Dysmetria, Atonic seizure, Gait ataxia, Bilateral tonic-clonic seizure, Genera... OMIM:617810
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Dravet Syndrome
Photosensitive myoclonic seizure, Atypical absence seizure, Action tremor, Drooling, Focal hemicl... ORPHA:33069
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Failure to thrive, Abnormal dental enamel morph... ORPHA:3019
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non... OMIM:619157
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Dysmetria, Dystonia, Drooling, Delayed eruption of teeth, Intention tremor... ORPHA:447896
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Drooling, Focal hemiclonic seizure, Focal-onset seizure, Epilept... OMIM:619606
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Abnormal tongue physiology, Generalized-onset seizure, Myoclonic absen... ORPHA:544254
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Dystonia, Atonic seizure, Generalized-onset seizure, Oculogyric crisis, General... ORPHA:208447
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Drooling, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (... OMIM:616281
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Myoclonic-Astatic Epilepsy
Long philtrum, Atonic seizure, Thick lower lip vermilion, Tremor, Ataxia, Focal-onset seizure, Ge... ORPHA:1942
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Delayed eruption of teeth, Generalized dystonia, Ataxia, Bilateral tonic-clonic ... OMIM:272300
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Drooling, Bilateral tonic-clonic seizu... ORPHA:1945
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Truncal obesity, Failure to thrive, Abnor... ORPHA:181393
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Obesity, Thick lower lip vermilion, Ataxia, ... ORPHA:10
X-Linked Non-Syndromic Intellectual Disability
Long philtrum, Small for gestational age, Drooling, Delayed eruption of teeth, Obesity, Thick low... ORPHA:777
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Microretrognathia, Generalized non-motor (absence) seizure OMIM:615553
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Short philtrum, Atonic seizure, Everted lower lip vermilion, Generalize... ORPHA:411986
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Dysmetria, Intention tremor, Ataxia, Tongue fasciculations, Bilateral tonic-clonic seizure, Gener... OMIM:618170
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Widely spaced teeth, Nocturnal seizures, Tremor, Drooling, Enamel hypopl... OMIM:619229
Developmental And Epileptic Encephalopathy 67
Seizure, Generalized myoclonic seizure, Athetosis, Generalized non-motor (absence) seizure OMIM:618141
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Thick lower lip vermilion, Bilateral tonic-clonic s... OMIM:619000
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Cleft lip, Increased overbite, Cleft palate, Tooth malp... OMIM:618761
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Ataxia, Macroglossia, Dental crowding, Bro... OMIM:616354
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysmetria, Dystonia, Delayed eruption of teeth, Intention tremor, Oligodontia, Hypodontia, Ataxia... OMIM:614381
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Obesity, Generalized non-motor (absence) seizure, Wide mouth OMIM:616521
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (abs... OMIM:271980
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Delayed eruption of teeth, Micrognathia, Malar flattening OMIM:613849
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Ataxia OMIM:618242
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Micrognathia, Ty... ORPHA:576283
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Developmental Disorder, X-Linked 30
High palate, Drooling, Open mouth, Thick upper lip vermilion, Thin upper lip vermilion, Generaliz... OMIM:300558
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Long philtrum, Delayed eruption of teeth, Dental crowding, Pain insensitivity, Seizu... OMIM:618825
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Chorea, Focal impaired awareness seizure, Focal tonic seizure, Bil... ORPHA:485350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body weight, Increased body mass index, Macroglossia OMIM:614450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Abnormality of the philtrum, Micro... ORPHA:2863
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Long philtrum, Head tremor, Bilateral tonic-clonic seizu... OMIM:619428
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure, Ataxia, Micrognathia, Mandibular prognathia OMIM:617183
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Nicolaides-Baraitser Syndrome
Long philtrum, Everted lower lip vermilion, High, narrow palate, Smooth philtrum, Generalized non... ORPHA:3051
Hall-Riggs Syndrome
Thick vermilion border, Delayed eruption of teeth, Seizure, Failure to thrive, Abnormal dental en... ORPHA:2107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Narrow mouth, High palate, Decreased body weight, Tonic seizure, Drooling, Widely spaced teeth, T... OMIM:300260
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:71267
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Open mouth, Microdontia, Micrognathia, Delayed eruption of permanent teeth, Bilater... OMIM:619356
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Failure to thrive, Ano... OMIM:264475
Pseudopseudohypoparathyroidism
Obesity, Delayed eruption of teeth, Enamel hypoplasia OMIM:612463
Laron Syndrome
Delayed eruption of teeth, Microdontia, Micrognathia, Truncal obesity, Tooth agenesis ORPHA:633
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long philtrum, Delayed eruption of teeth, Micrognathia, Hypoplasia of teeth, Hypopl... OMIM:257850
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Temple-Baraitser Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, T... ORPHA:420561
X-Linked Hypohidrotic Ectodermal Dysplasia
Microdontia, Everted lower lip vermilion, Delayed eruption of teeth, Everted upper lip vermilion ORPHA:181
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Coffin-Siris Syndrome 3
Delayed eruption of permanent teeth, Seizure, Wide mouth, Macroglossia OMIM:614608
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Seizure, Atonic seizure OMIM:610293
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:613839
Frank-Ter Haar Syndrome
Short philtrum, Delayed eruption of teeth, Wide mouth, Premature loss of teeth, Mandibular progna... ORPHA:137834
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
48,Xxxy Syndrome
Delayed eruption of teeth, Open bite, Obesity, Carious teeth, Abnormal dental enamel morphology, ... ORPHA:96263
Momo Syndrome
Large for gestational age, High palate, Long philtrum, Delayed eruption of teeth, Obesity, Thick ... ORPHA:2563
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Hypoplasi... ORPHA:915
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
3P25.3 Microdeletion Syndrome
Short philtrum, Deep philtrum, Generalized myoclonic seizure, Ataxia, Micrognathia, High, narrow ... ORPHA:435638
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Supernumerary tooth, High, narrow palate, M... ORPHA:2980
Intellectual Developmental Disorder, X-Linked 98
Short philtrum, Tonic seizure, Drooling, Atonic seizure, Open mouth, Generalized myoclonic seizur... OMIM:300912
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Micrognathia, Truncal obesity, Failure to t... ORPHA:73272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Widely spaced teeth, Bilateral tonic-clonic seizure with generalized on... ORPHA:98795
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Seizure, Delayed eruption of teeth ORPHA:2238
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Enamel hypoplasia, Oligodontia, Antegonial notching of ma... OMIM:170390
Three M Syndrome 2
High palate, Long philtrum, Small for gestational age, Delayed eruption of teeth, Malar flattenin... OMIM:612921
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Dental malocclusion OMIM:612350
Smith-Magenis Syndrome
Short philtrum, Cleft upper lip, Failure to thrive in infancy, Open mouth, Impaired pain sensatio... ORPHA:819
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Delayed eruption o... OMIM:616367
Emanuel Syndrome
High palate, Submucous cleft lip, Bifid uvula, Long philtrum, Delayed eruption of teeth, Broad ja... ORPHA:96170
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Momo Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Obesity, Thick lower lip vermilion, Smooth... OMIM:157980
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Ataxia, T... ORPHA:168491
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Hypodontia, Micrognathia, Dental malocclusi... OMIM:269880
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Short philtrum, Delayed eruption of teeth, Small for gestational age, Open mouth, Te... OMIM:619148
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Delayed eruption of teeth, Myoclonic spasms, Enamel hypoplasia, Paresthesi... ORPHA:94089
Pseudohypoparathyroidism, Type Ic
Obesity, Seizure, Delayed eruption of teeth, Enamel hypoplasia OMIM:612462
Pycnodysostosis
High palate, Enamel hypoplasia, Hypodontia, Carious teeth, Overweight, Micrognathia, Hypoplasia o... ORPHA:763
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Seizure, Mandibular prognat... ORPHA:1327
Dpm1-Cdg
Atonic seizure, U-Shaped upper lip vermilion, Tented upper lip vermilion, Ataxia, Micrognathia, H... ORPHA:79322
Coffin-Lowry Syndrome
High palate, Delayed eruption of teeth, Craniofacial hyperostosis, Open mouth, Hypodontia, Everte... ORPHA:192
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Infan... ORPHA:1934
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Hyperprolinemia Type 2
Atonic seizure, Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:79101
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Angelman Syndrome
Atypical absence seizure, Drooling, Atonic seizure, Obesity, Widely spaced teeth, Ataxia, General... ORPHA:72
Pseudohypoparathyroidism, Type Ia
Obesity, Seizure, Delayed eruption of teeth, Enamel hypoplasia OMIM:103580
Cockayne Syndrome Type 2
Widely spaced primary teeth, Enamel hypoplasia, Ataxia, Delayed eruption of primary teeth, Hypopl... ORPHA:90322
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Opisthotonus, Atonic seizure, Generalized myoclonic seizure, Generalize... ORPHA:95232
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Thin vermilion border, Delayed eruption of teeth, Micrognathia OMIM:601812
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Athetosis, Failure to thrive, Focal emotional seiz... ORPHA:79351
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Short philtrum, High palate, Micrognathia, Widely-spaced maxillary central incisors, Thin upper l... ORPHA:363686
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Cleidocranial Dysplasia
Sinusitis, Delayed eruption of teeth, Open bite, Carious teeth, Supernumerary tooth, High, narrow... ORPHA:1452
Emanuel Syndrome
High palate, Long philtrum, Micrognathia, Delayed eruption of primary teeth, Dental crowding, Sei... OMIM:609029
Craniosynostosis And Dental Anomalies
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of teeth OMIM:614188
Cockayne Syndrome Type 1
Widely spaced primary teeth, Enamel hypoplasia, Ataxia, Delayed eruption of primary teeth, Failur... ORPHA:90321
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Char Syndrome
Thick vermilion border, Short philtrum, Everted lower lip vermilion, Malar flattening, No permane... ORPHA:46627
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Delayed eruption of teeth, Enamel hypoplasia, Carious teeth, Failure to th... OMIM:277440
Kleefstra Syndrome Due To 9Q34 Microdeletion
Obesity, Everted lower lip vermilion, Seizure, Macroglossia, Failure to thrive, Epileptic spasm, ... ORPHA:96147
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Deep philtrum, Micrognathia... OMIM:190350
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Microdontia, Hypoplasia of ... ORPHA:50814
Codas Syndrome
Abnormality of dental morphology, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1458
Lowry-Maclean Syndrome
Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Delayed eruption of primary teeth, ... ORPHA:2409
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Widely spaced teeth, Obesity, Everted lower lip vermilion, Thick lower lip vermili... OMIM:615873
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Mandibular ... ORPHA:1133
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Enamel hypoplasia, Failure to thrive, Generalized non-motor (absence) seizure, Abnor... OMIM:615802
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Ataxia, Focal-onset seizure, Failure to thrive, Bilateral tonic-cl... ORPHA:395
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypocalcemic seizures, Delayed eruption of teeth, Enamel hypoplasia OMIM:264700
Kleefstra Syndrome
Delayed eruption of teeth, Obesity, Everted lower lip vermilion, Exaggerated cupid's bow, Tented ... ORPHA:261494
Dysosteosclerosis
High palate, Absent paranasal sinuses, Delayed eruption of teeth, Oligodontia, Micrognathia, Nata... OMIM:224300
Acrodysostosis
Delayed eruption of teeth, Open bite, Open mouth, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:950
Frontometaphyseal Dysplasia 1
High palate, Delayed eruption of teeth, Antegonial notching of mandible, Selective tooth agenesis... OMIM:305620
Eiken Syndrome
Short philtrum, Decreased body weight, Oligodontia, Thick lower lip vermilion, Eruption failure, ... OMIM:600002
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Hypodontia, Abnormal oral frenulum morp... ORPHA:952
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth OMIM:184260
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Dystonia, Atonic seizure, Small for gestational age, Fatigable weakness of speech ... ORPHA:404454
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Limb dystonia, Retrognathia, Bilateral tonic-clonic seizure, Gener... ORPHA:457351
Kinsship Syndrome
Short philtrum, Ankyloglossia, Widely spaced teeth, Thick lower lip vermilion, Focal-onset seizur... OMIM:619297
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard p... ORPHA:2780
Hyperekplexia-Epilepsy Syndrome
Focal impaired awareness seizure, Generalized tonic seizure, Exaggerated startle response ORPHA:163985
Craniometaphyseal Dysplasia, Autosomal Recessive
Broad alveolar ridges, Delayed eruption of permanent teeth, Mandibular prognathia, Facial hyperos... OMIM:218400
Marbach-Rustad Progeroid Syndrome
Narrow mouth, Intention tremor, Hypodontia, Eruption failure, Micrognathia, Delayed eruption of p... OMIM:619322
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Long philtrum, Eruption failure, Micrognathia, Gait ataxia, Failure to thrive, Denta... ORPHA:476126
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Infantile spasms, Failure to ... OMIM:247200
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Dysosteosclerosis
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:1782
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Microdontia, Failure to thrive, Abnormality of the dentition ORPHA:2315
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow mouth, Delayed eruption of teeth, Oligodontia, Conical incisor, Malar flattening, Retrogna... OMIM:235510
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Long philtrum, Obesity, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, High, ... ORPHA:369837
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Dental malocclusion, Mandibular prognathia, Thick vermilion border OMIM:601957
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Kleefstra Syndrome 1
Obesity, Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Natal tooth, Ma... OMIM:610253
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth, T... ORPHA:2063
Tay-Sachs Disease
Dysmetria, Dystonia, Drooling, Typical absence seizure, Laryngeal dystonia, Exaggerated startle r... ORPHA:845
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gapo Syndrome
Abnormal palate morphology, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion... ORPHA:2067
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypocalcemic seizures, Delayed eruption of teeth, Enamel hypoplasia ORPHA:289157
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Narrow mouth, Delayed eruption of teeth, Obesity, Thick lower lip vermilion, High, narrow palate,... ORPHA:369950
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Delayed eruption of teeth, High, narrow palate, Macrodontia, Taurodontia ORPHA:3214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Advanced eruption of teeth, Small for gestational age, Mandibular prognathia OMIM:262190
Coffin-Siris Syndrome 9
Short philtrum, High palate, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, ... OMIM:615866
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Small for gestational age, Hypodontia, Hypoplasia of the maxilla, Mand... OMIM:101800
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Macroglossia, Seizure OMIM:309900
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Small for gestational age, Carious teeth, Microdontia, Supernumerary t... ORPHA:2909
Spondyloenchondrodysplasia
Chorea, Dental malocclusion, Seizure, Delayed eruption of teeth ORPHA:1855
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
3M Syndrome
Abnormal dental enamel morphology, Everted lower lip vermilion, Long philtrum, Delayed eruption o... ORPHA:2616
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Osteoglosphonic Dysplasia
Tooth agenesis, Micrognathia, Failure to thrive in infancy, Multiple unerupted teeth ORPHA:2645
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of ... OMIM:607812
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormality of dental morphology, Oral cleft, Abnormality of the denti... ORPHA:568
Melnick-Needles Syndrome
Craniofacial hyperostosis, Tooth malposition, Delayed eruption of teeth, Micrognathia ORPHA:2484
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Open mouth, Impaired mastication, Focal-onset seizure, Macroglossia, Abnor... ORPHA:258
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Small for gestational age, M... OMIM:268400
Immunodeficiency 49
Natal tooth, Short philtrum, Seizure, Micrognathia OMIM:617237
De Barsy Syndrome
Narrow mouth, High palate, Delayed eruption of teeth, Athetosis, Progressive cerebellar ataxia, F... ORPHA:2962
Barber-Say Syndrome
High palate, Delayed eruption of teeth, Micrognathia, High, narrow palate, Mandibular prognathia,... OMIM:209885
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Abnormality of the dentition, Cleft palate, Delayed eruption of teeth ORPHA:2314
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Delayed eruption of teeth, Myoclonic spasms, Enamel hypoplasia, Obesity, P... ORPHA:79444
Malan Syndrome
Narrow mouth, Everted lower lip vermilion, Hyperplasia of the premaxilla, Retrognathia, Mandibula... OMIM:614753
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Widely spaced teeth, Micrognathia, Febrile seizure (within the age range of 3 months to 6 years),... ORPHA:513456
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Micrognathia ORPHA:2050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Dystonia, Abnormality of primary teeth, Tented upper lip vermilion, Ataxia, Exaggera... ORPHA:438216
Genitopatellar Syndrome
Delayed eruption of teeth, Seizure, Long philtrum, Micrognathia ORPHA:85201
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Abnormal oral mucosa morphology, Hypodon... ORPHA:289
Oculocerebrorenal Syndrome Of Lowe
Long philtrum, Open bite, Everted lower lip vermilion, Micrognathia, Mandibular prognathia, Thin ... ORPHA:534
Sotos Syndrome
High palate, High, narrow palate, Seizure, Mandibular prognathia, Advanced eruption of teeth, Nar... OMIM:117550
Sener Syndrome
High palate, Hypodontia, Natal tooth, Delayed eruption of permanent teeth, Smooth philtrum, Wide ... OMIM:606156
Cockayne Syndrome B
Small for gestational age, Carious teeth, Ataxia, Hypoplasia of teeth, Severe failure to thrive, ... OMIM:133540
Monosomy 9Q22.3
Large for gestational age, Odontogenic keratocysts of the jaw, Narrow mouth, Long philtrum, Delay... ORPHA:77301
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Elsahy-Waters Syndrome
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Thick lower lip vermilion, Hy... OMIM:211380
Lead Poisoning
Somatic sensory dysfunction, Seizure, Delayed eruption of teeth, Small for gestational age ORPHA:330015
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Delayed eruption of teeth, Open mouth, Deep philtrum, Febrile seizure (within the ag... ORPHA:1675
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Microdontia, Carious teeth, Natal tooth, Malar flattening,... OMIM:269300
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibular prognathia, Narrow ... ORPHA:87
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Periodontitis, Obesity, Delayed eruption of permanent teeth, Premature loss of teeth, Retrognathi... OMIM:619269
Barber-Say Syndrome
Failure to thrive, Delayed eruption of teeth, Wide mouth ORPHA:1231
Cleidocranial Dysplasia
High palate, Absent paranasal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Supernumer... OMIM:119600
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Delayed eruption of teeth, Choreoathetosis, Enamel hypoplasia, Myoclonic s... ORPHA:79443
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth OMIM:147060
Ellis-Van Creveld Syndrome
Cleft upper lip, Delayed eruption of teeth, Hypodontia, Natal tooth, Abnormality of the alveolar ... OMIM:225500
Chst3-Related Skeletal Dysplasia
Long philtrum, Delayed eruption of teeth ORPHA:263463
Cherubism
Narrow palate, Oligodontia, Jaw swelling, Alveolar ridge overgrowth, Dental malocclusion, Marcus ... OMIM:118400
Kleefstra Syndrome Due To A Point Mutation
Large for gestational age, Thick lower lip vermilion, Natal tooth, Failure to thrive, Abnormality... ORPHA:261652
Cockayne Syndrome A
Enamel hypoplasia, Carious teeth, Ataxia, Hypoplasia of teeth, Delayed eruption of primary teeth,... OMIM:216400
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Dental crowding, Seizure, Overweight OMIM:619769
Rothmund-Thomson Syndrome Type 2
High palate, Delayed eruption of teeth, Small for gestational age, Carious teeth, Microdontia, Ab... ORPHA:221016
Cornelia De Lange Syndrome 1
High palate, Cleft upper lip, Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Micr... OMIM:122470
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Small for gestational age, Carious teeth, Microdontia, Abnormal dental... ORPHA:221008
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, High, narrow palate ORPHA:3238
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Abnormality of dental morphology, Supernumerary tooth, Delayed eruption of teeth ORPHA:3353
Kabuki Syndrome 2
High palate, Decreased body weight, Lower lip pit, Hypodontia, Micrognathia, Natal tooth, Dental ... OMIM:300867
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition ORPHA:1811
Hennekam Syndrome
Narrow mouth, Short philtrum, Delayed eruption of teeth, Abnormal oral mucosa morphology, Supernu... ORPHA:2136
Hallermann-Streiff Syndrome
Narrow mouth, High palate, Thin vermilion border, Choreoathetosis, Small for gestational age, Eve... OMIM:234100
Ramon Syndrome
Decreased body weight, Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Seizure OMIM:266270
Robinow Syndrome
Broad alveolar ridges, Long philtrum, Small for gestational age, Hypodontia, Bifid tongue, Microg... ORPHA:97360
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent sinusitis, Failure to thrive, Generalized non-motor (absence) seizure ORPHA:293978
Robinow Syndrome, Autosomal Recessive 1
Absent uvula, Long philtrum, Bifid tongue, Micrognathia, Macroglossia, Delayed eruption of perman... OMIM:268310
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Velopharyngeal insufficiency... OMIM:223370
Acrocraniofacial Dysostosis
Natal tooth, Short philtrum, Cleft palate, Micrognathia OMIM:201050
Trichothiodystrophy 3, Photosensitive
Natal tooth, Eclabion, Failure to thrive, Carious teeth OMIM:616395
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Open bite, Abnormality of primary teeth, Open mout... ORPHA:352665
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Incontinentia Pigmenti
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Abnormal dental enamel m... ORPHA:464
Zimmermann-Laband Syndrome 1
High palate, Delayed eruption of teeth, Gingival fibromatosis, Thick lower lip vermilion, Mandibu... OMIM:135500
Asparagine Synthetase Deficiency
Failure to thrive, Seizure, Micrognathia, Exaggerated startle response OMIM:615574
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Seizure, Exaggerated startle response ORPHA:309246
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-... ORPHA:466943
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
8P Inverted Duplication/Deletion Syndrome
Long philtrum, Everted lower lip vermilion, Abnormality of dental eruption, Micrognathia, High, n... ORPHA:96092
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular prognathia OMIM:259710
Pachyonychia Congenita
Oral leukoplakia, Angular cheilitis, Natal tooth, Failure to thrive, Advanced eruption of teeth ORPHA:2309
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Delayed eruption of teeth, Intention tremor, Hypodontia, Micrognathia, Natal tooth,... OMIM:264090
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palate, Abnormality of... ORPHA:235
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Malar flattening, Mandibular prognathia, Dental malocclus... OMIM:101200
Cockayne Syndrome
Action tremor, Agenesis of permanent teeth, Somatic sensory dysfunction, Intention tremor, Enamel... ORPHA:191
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Enamel hypoplasia, Oligodontia, Microdontia, Malar flattening, Dental malocclusion... OMIM:618727
Multiple Pterygium-Malignant Hyperthermia Syndrome
Narrow mouth, Broad alveolar ridges, Long philtrum, Exaggerated cupid's bow, Abnormal mandible mo... ORPHA:2215
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Oligodontia, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:37553
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palate, ... OMIM:300990
Robinow Syndrome, Autosomal Dominant 1
High palate, Long philtrum, Delayed eruption of teeth, Bifid tongue, Micrognathia, Macroglossia, ... OMIM:180700
Microphthalmia, Syndromic 2
Bifid uvula, Decreased body weight, Long philtrum, Delayed eruption of teeth, Fused teeth, Radicu... OMIM:300166
Osteogenesis Imperfecta
Dental malocclusion, Somatic sensory dysfunction, Delayed eruption of teeth, Small for gestationa... ORPHA:666
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia OMIM:259600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Failure to thrive in infancy, Small for gestational age, Cleft soft palate, Widel... ORPHA:268261
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Persistence of primary teeth, Supernumerary tooth OMIM:619752
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Seizure, Exaggerated startle response OMIM:272750
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Microdontia, Micrognathia, Natal tooth, Malar flatt... OMIM:259775
Codas Syndrome
Seizure, Delayed eruption of teeth, Enamel hypoplasia OMIM:600373
Schinzel-Giedion Syndrome
Broad alveolar ridges, High palate, Short philtrum, Delayed eruption of teeth, Failure to thrive ... ORPHA:798
Trisomy 9P
Impacted tooth, Dental crowding, Downturned corners of mouth, Non-midline cleft lip ORPHA:236
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exagger... OMIM:608643
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Delayed eruption of permanent teeth, Tented upper lip vermilion, Mandibular progn... ORPHA:521445
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity, Typical absence seizure, Simple febrile seizure, Branchial anomaly, Thi... ORPHA:466950
Camurati-Engelmann Disease
Delayed eruption of teeth, Craniofacial osteosclerosis, Slender build, Carious teeth, Ataxia, Cac... ORPHA:1328
Melnick-Needles Syndrome
Delayed eruption of teeth, Micrognathia, Failure to thrive, Obtuse angle of mandible, Cleft palat... OMIM:309350
Wrinkly Skin Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Carious teeth, Status epilepticus, Progres... ORPHA:2834
Doors Syndrome
Broad alveolar ridges, High palate, Long philtrum, Gingival overgrowth, Abnormality of the dentit... ORPHA:79500
Carpenter Syndrome 1
High palate, Agenesis of permanent teeth, Obesity, Micrognathia, Hypoplasia of the maxilla, Malar... OMIM:201000
Hyperekplexia 1
Nocturnal seizures, Myoclonus, Seizure, Exaggerated startle response OMIM:149400
Incontinentia Pigmenti
Hypodontia, Seizure, Delayed eruption of teeth OMIM:308300
Osteopathia Striata With Cranial Sclerosis
Pierre-Robin sequence, High palate, Bifid uvula, Cleft upper lip, Paranasal sinus hypoplasia, Cra... OMIM:300373
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Acrocraniofacial Dysostosis
Short philtrum, Advanced eruption of teeth, Cleft palate, Micrognathia ORPHA:949
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Pitt-Hopkins Syndrome
Short philtrum, Abnormal palate morphology, Failure of eruption of permanent teeth, Ataxia, Gait ... ORPHA:2896
Coffin-Siris Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Broad philtrum, Thin upper lip vermilion, S... ORPHA:1465
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Long philtrum, Generalized-onset seizure, Tented upper lip vermilion, Micrognathia, ... OMIM:617527
Shwachman-Diamond Syndrome
Sinusitis, Delayed eruption of teeth, Carious teeth, Failure to thrive, Oral ulcer ORPHA:811
Hutchinson-Gilford Progeria Syndrome
Narrow mouth, High palate, Impacted tooth, Thin vermilion border, Delayed eruption of teeth, Hypo... ORPHA:740
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Periodontitis, Carious teeth, Failure to thrive, Delayed eruption of perma... ORPHA:79259
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Sandhoff Disease
Ataxia, Impaired temperature sensation, Macroglossia, Exaggerated startle response, Bilateral ton... OMIM:268800
Gapo Syndrome
Thick lower lip vermilion, Eruption failure, Micrognathia, High, narrow palate, Abnormality of th... OMIM:230740
Coffin-Siris Syndrome 1
High palate, Short philtrum, Delayed eruption of teeth, Long philtrum, Conical tooth, Thick lower... OMIM:135900
Familial Osteodysplasia, Anderson Type
Failure of eruption of permanent teeth, Carious teeth, Malar flattening, Mandibular prognathia, S... ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Micrognathia, Submucous cleft hard palate, Malar flattening, Retrognathia, Epileptic... ORPHA:2636
Plaa-Associated Neurodevelopmental Disorder
High palate, Dystonia, Long philtrum, Tented upper lip vermilion, Micrognathia, Failure to thrive... ORPHA:521426
Otopalatodigital Syndrome, Type I
Narrow mouth, Absent frontal sinuses, Selective tooth agenesis, Malar flattening, Cleft palate, M... OMIM:311300
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Premature eruption of permanent teeth, Seizure ORPHA:199276
Teebi Hypertelorism Syndrome 1
Long philtrum, Micrognathia, Natal tooth, Dental crowding, Thin upper lip vermilion OMIM:145420
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Gingival overgrowth ORPHA:508542
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum OMIM:617337
Wrinkly Skin Syndrome
High palate, Long philtrum, Delayed eruption of teeth, Microdontia, Carious teeth, Failure to thr... OMIM:278250
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Cornelia De Lange Syndrome
High palate, Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Micrognathia, Truncal... ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Narrow mouth, High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Atonic seizure... OMIM:619503
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Exaggerated startle response ORPHA:320406
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Rabson-Mendenhall Syndrome
High palate, Macroglossia, Furrowed tongue, Dental crowding, Mandibular prognathia, Abnormality o... ORPHA:769
Osteoglophonic Dysplasia
High palate, Long philtrum, Eruption failure, Failure to thrive, Malar flattening, Mandibular pro... OMIM:166250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Submucous cleft soft palate, Short philtrum, Bifid uvula, Failure to thrive in infancy, Generaliz... ORPHA:500150
Stickler Syndrome
Cleft upper lip, Long philtrum, Open bite, Slender build, Micrognathia, Macroglossia, Hypoplasia ... ORPHA:828
Autosomal Recessive Malignant Osteopetrosis
Premature loss of primary teeth, Delayed eruption of teeth, Tremor ORPHA:667
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Cleft lip, Natal tooth, Microretrognathia, Cleft palate, Hypoplastic facial bon... OMIM:616300
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Mowat-Wilson Syndrome
Bifid uvula, Everted lower lip vermilion, Widely spaced teeth, Mandibular prognathia, Submucous c... ORPHA:2152
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Tooth abscess ORPHA:289176
Tay-Sachs Disease
Seizure, Exaggerated startle response OMIM:272800
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Micrognathia, Natal tooth, Malar flattening, Cleft palate OMIM:612651
Hallermann-Streiff Syndrome
Narrow mouth, Supernumerary tooth, Abnormality of the tongue, Micrognathia, High, narrow palate, ... ORPHA:2108
Sponastrime Dysplasia
Small for gestational age, Hypoplasia of the nasal bone, Microdontia, Short dental root, Hypoplas... ORPHA:93357
Osteopetrosis With Renal Tubular Acidosis
Narrow mouth, High palate, Thick lower lip vermilion, Micrognathia, Failure to thrive, Retrognath... ORPHA:2785
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Abnormality of dental eruption, Seizure, Absent ethmoidal... OMIM:211910
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Long philtrum, Delayed eruption of teeth, Microdontia, Widely spaced teeth OMIM:143095
Focal Dermal Hypoplasia
Cleft upper lip, Delayed eruption of teeth, Enamel hypoplasia, Oligodontia, Hypodontia, Dental ma... OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short philtrum, Atypical absence seizure, Bifid uvula, Delayed eruption of teeth, Open mouth, Cle... ORPHA:261537
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Adnp Syndrome
Thick lower lip vermilion, Impaired mastication, Truncal obesity, Smooth philtrum, Thin upper lip... ORPHA:404448
Smith-Lemli-Opitz Syndrome
Long philtrum, Supernumerary tooth, Bifid tongue, Micrognathia, Microglossia, Abnormality of dent... ORPHA:818
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Charge Syndrome
Narrow mouth, Cleft upper lip, Delayed eruption of teeth, Abnormal soft palate morphology, Hypopl... ORPHA:138
Pachyonychia Congenita 2
Natal tooth OMIM:167210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short philtrum, Atypical absence seizure, Bifid uvula, Delayed eruption of teeth, Open mouth, Cle... ORPHA:261552
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Sotos Syndrome
Hypodontia, Generalized myoclonic seizure, Delayed eruption of permanent teeth, Generalized non-m... ORPHA:821
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Familial Adenomatous Polyposis 1
Abnormality of the dentition, Carious teeth, Supernumerary tooth, Eruption failure, Odontoma OMIM:175100
Pallister-Hall Syndrome
Cleft upper lip, Microglossia, Natal tooth, Seizure, Cleft palate OMIM:146510
Mowat-Wilson Syndrome
Drooling, Delayed eruption of teeth, Widely spaced teeth, Submucous cleft hard palate, Seizure, C... OMIM:235730
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypodontia, Carious teeth, Obesity, Supernumerary tooth, Natal tooth, Failure to thrive, Dental c... ORPHA:353281
Gm1 Gangliosidosis Type 1
Long philtrum, Macroglossia, Exaggerated startle response, Seizure, Gingival overgrowth ORPHA:79255
Opitz Gbbb Syndrome
High palate, Long philtrum, Hypodontia, Micrognathia, Cleft lip, Natal tooth, Ankyloglossia, Clef... ORPHA:2745
Wiedemann-Rautenstrauch Syndrome
Submucous cleft soft palate, Short philtrum, Narrow mouth, Action tremor, Slender build, Abnormal... ORPHA:3455
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Hamartoma of tongue, Natal tooth, Median cleft lip and palate, Median cleft lip OMIM:269860
Glycine Encephalopathy With Normal Serum Glycine
Retrognathia, Exaggerated startle response OMIM:617301
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, T... ORPHA:2250
Blomstrand Lethal Chondrodysplasia
Long philtrum, Micrognathia, Natal tooth, Malar flattening, Protruding tongue ORPHA:50945
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Cleft lip, Natal tooth, Hamartoma of tongue, Cleft palate OMIM:617925
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate ORPHA:158687
Floating-Harbor Syndrome
Short philtrum, Small for gestational age, Oligodontia, Carious teeth, Microdontia, Hypoplasia of... ORPHA:2044
Pallister-Killian Syndrome
Bifid uvula, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Alveolar ridge overgrow... OMIM:601803
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hypodontia, Obesity, Carious teeth, Supernumerary tooth, Micrognathia, Natal tooth, ... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hypodontia, Obesity, Carious teeth, Supernumerary tooth, Micrognathia, Natal tooth, ... ORPHA:353284
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Hypocalcemic seizures, Calvarial osteosclerosis ORPHA:93325
Lacrimoauriculodentodigital Syndrome
Absence of Stensen duct, Enamel hypoplasia, Hypodontia, Carious teeth, Conical incisor, Delayed e... OMIM:149730
Gardner Syndrome
Odontoma, Abnormality of the dentition, Supernumerary tooth, Multiple unerupted teeth ORPHA:79665
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure, Ataxia ORPHA:77293
Meckel Syndrome, Type 1
Cleft upper lip, Lobulated tongue, Micrognathia, Natal tooth, Cleft palate, Wide mouth OMIM:249000
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Abnormal cementum morphology... ORPHA:733
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Exaggerated startle response OMIM:253800
Orofaciodigital Syndrome Xiv
Lobulated tongue, Supernumerary tooth, Micrognathia, Hamartoma of tongue, Cleft lip, Natal tooth,... OMIM:615948
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Everted lower lip vermilion, Oral cleft, Advanced eruption of teeth, Thin vermilio... ORPHA:1519
Singleton-Merten Syndrome 1
Decreased body weight, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Hypoplasia ... OMIM:182250
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia OMIM:272460
Restrictive Dermopathy 1
Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Natal tooth, Submucous cleft hard ... OMIM:275210
Pallister-Hall Syndrome
Large for gestational age, Accessory oral frenulum, Bifid uvula, Cleft lip, Natal tooth, Microglo... ORPHA:672
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Drooling, Bilateral tonic-clonic seizure on awakening, Deep philtrum, Generalized tonic... ORPHA:438213
Restrictive Dermopathy
Narrow mouth, Temporomandibular joint ankylosis, Micrognathia, Natal tooth, Submucous cleft hard ... ORPHA:1662
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
High palate, Carious teeth, Seizure, Exaggerated startle response, Downturned corners of mouth, T... OMIM:619522
Alström Syndrome
Somatic sensory dysfunction, Obesity, Tooth agenesis, Ataxia, Truncal obesity, Typical absence se... ORPHA:64

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 Otud7a

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 Otud7a.

No publications found that use IMPC mice or data for Otud7a.

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MGI Allele Allele Type Produced
Otud7aem1(IMPC)Bay Exon Deletion Mice
Otud7atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otud7atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Otud7atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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