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Gene: Otud7a MGI:2158505

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Gene Summary

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

Order Alleles

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 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 Skull Dorso Ventral Orientation

6 Images

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MicroCT E18.5

Embryo reconstruction

11 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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XRay Images Whole Body Lateral Orientation

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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
Thin upper lip vermilion, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, ... OMIM:618587
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My... OMIM:616421
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Generalized non-motor (absence) seizure, Torsion dystonia, Choreoathetosis, Seizu... ORPHA:98811
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Continuous Spikes And Waves During Sleep
Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical ... ORPHA:725
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Gingival overgrowth, Gingival fi... ORPHA:2026
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, G... ORPHA:36387
Developmental And Epileptic Encephalopathy 56
Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure,... OMIM:617665
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Multifocal seizures, Ataxia, Choreoathetosis, Status epilepticus, Hypo... OMIM:615905
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Seizure, Short mandibular... OMIM:141300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Fatigable we... ORPHA:2325
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Liang-Wang Syndrome
Thin upper lip vermilion, Ataxia, Diastema, Generalized non-motor (absence) seizure, Gingival ove... OMIM:618729
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... OMIM:617113
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Micrognathia, Focal-onset seizure, Generalized ... OMIM:619616
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
4H Leukodystrophy
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Tremor, Dysmetria, Seizure, Dysd... ORPHA:289494
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... ORPHA:79137
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Dystonia, Generalized myoclonic seizure, Myocloni... OMIM:617836
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl... OMIM:617810
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Micrognathia, Focal motor seizure... OMIM:617711
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Ataxia, Postural tremor, Impaired distal proprioception, Focal-onset s... ORPHA:447896
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal tongue physiology, Tremor, Wide mouth, Thin vermilion... ORPHA:544254
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:1942
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Thick lower... OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Ataxia, Abnormal dental enamel morphology, Tremor, Open bit... ORPHA:10
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Intellectual Developmental Disorder With Seizures And Language Delay
Thick lower lip vermilion, Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic s... OMIM:619000
Arthrogryposis, Impaired Intellectual Development, And Seizures
Microretrognathia, Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:271980
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Choreoat... OMIM:272300
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non... OMIM:615637
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Infantile spasms, Generalized non-motor (absence) seizure, Focal impair... ORPHA:411986
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, High palate, Fa... OMIM:616281
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... ORPHA:1945
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, ... OMIM:617105
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesi... OMIM:614381
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Periventricular Nodular Heterotopia 7
Microretrognathia, Ataxia, Dental crowding, Infantile spasms, Micrognathia, Pierre-Robin sequence... OMIM:617201
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Den Hoed-De Boer-Voisin Syndrome
Tremor, Widely spaced teeth, Decreased body weight, Amelogenesis imperfecta, Ataxia, Overweight, ... OMIM:619229
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-motor (absence) seizure... ORPHA:485350
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure, Obesity OMIM:613886
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Typical absence seizure, Cl... ORPHA:576283
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Wide mouth, Seizure, High palate,... OMIM:618825
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness seizure OMIM:616521
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Ataxia, Dental crowding, Seizure, Macroglossia, Thick vermilion border... OMIM:616354
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Generalized non-motor (absence) seizure, Dystonia OMIM:617183
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Generalized non-motor (absence) seizure OMIM:618242
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Tremor, Persistence of primary teeth, Thick lower lip vermilion, O... OMIM:618342
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Infantile spasms, Thick lower lip vermilion, Seizure, Widely spaced teeth OMIM:619797
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... ORPHA:2863
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Macroglossia, Increased body weight OMIM:614450
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Small for gestational age, Micrognathia, Carious teeth, Seizure, Thin ... OMIM:214150
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Generali... ORPHA:101070
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Tented upper lip vermilion, Chorea, Generalized non-motor (absence) seizure, ... OMIM:620149
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
Nicolaides-Baraitser Syndrome
Epileptic spasm, High, narrow palate, Generalized non-motor (absence) seizure, Wide mouth, Seizur... ORPHA:3051
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617600
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... OMIM:300558
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Seizure, Macroglo... OMIM:614607
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D... ORPHA:884
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta ORPHA:71267
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Tented upper lip vermilion, Ataxia, Tonic seizure, Narrow mouth, Chorea, Gene... OMIM:300260
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Seizur... ORPHA:2107
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, ... OMIM:619356
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Choreoathetosis, Seizure, Dystonia, Failure to thrive, Myoclonic absence seizure OMIM:616034
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate OMIM:217150
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Truncal obesity, Tooth agenesis, Microdontia ORPHA:633
Coffin-Siris Syndrome 3
Cleft palate, Wide mouth, Macroglossia, Seizure, Delayed eruption of permanent teeth, Thick vermi... OMIM:614608
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Obesity OMIM:612463
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... ORPHA:137834
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion ORPHA:181
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... OMIM:613849
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Hypodontia ORPHA:1816
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, Thin vermilion border, Short philtrum, Smooth philtrum, ... OMIM:300801
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tremor, Open... ORPHA:96263
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... ORPHA:2980
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... ORPHA:915
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... ORPHA:2563
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption... ORPHA:819
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Abnormality of the dentition, ... OMIM:615398
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Bilateral tonic-clonic seizure, Ataxia, Microgna... ORPHA:435638
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... OMIM:620166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Ataxia, Infant... OMIM:300912
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Seizure, Abnormal dental enamel morphology ORPHA:2238
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ... OMIM:157980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula OMIM:612350
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... ORPHA:98795
Three M Syndrome 2
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, High palate, Thick ver... OMIM:612921
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tremor, Open... ORPHA:96264
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p... ORPHA:96170
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
Dpm1-Cdg
Early onset absence seizures, Tented upper lip vermilion, Ataxia, Micrognathia, High, narrow pala... ORPHA:79322
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Dysesthesia, Distal sensory impairment, ... ORPHA:79101
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Overweight, Hypoplasia... ORPHA:763
Emanuel Syndrome
Broad jaw, Torticollis, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft p... OMIM:609029
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... ORPHA:192
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Small for gestational... OMIM:619148
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Typical absence seizure, Focal tonic... ORPHA:168491
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... ORPHA:1327
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Micrognathia, Generalized non-mot... OMIM:301091
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... ORPHA:2712
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Micr... OMIM:619777
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Micrognathia, ... OMIM:620224
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Ataxia, Postural tremor, Gingival overgrowth, Alveolar ridge overgrowt... OMIM:301072
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Seizure, Enamel hypoplasia, Obesity OMIM:612462
Cockayne Syndrome Type 2
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hy... ORPHA:90322
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Micrognathia, Generalized non-motor (absence) seizure, Wide mouth, Wide... ORPHA:363686
Pycnodysostosis
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... OMIM:265800
Cockayne Syndrome Type 1
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Abnormality of the dentition, T... ORPHA:90321
Char Syndrome
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... ORPHA:46627
Angelman Syndrome
Mandibular prognathia, Ataxia, Infantile spasms, Protruding tongue, Tremor, Obesity, Wide mouth, ... ORPHA:72
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tented upper lip vermilion, Tremor, Truncal titubation, Dysmetria, ... OMIM:618056
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Seizure, Enamel hypoplasia, Obesity OMIM:103580
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Enamel hypoplasia, Failure to thrive, Hypocalcemic seiz... OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 42
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizu... OMIM:616973
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia OMIM:616029
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Abnormality of the dentition, Generalized non-motor (absence) sei... OMIM:615802
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Opisthotonus, Seizure, Focal impaired awareness seizure, A... ORPHA:95232
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Codas Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1458
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Protruding tongue, Generalized non-motor (absence) seizure, Obesity, Downturned ... ORPHA:96147
Short Syndrome
Delayed eruption of teeth, Small for gestational age, Micrognathia, Dental malocclusion, Downturn... OMIM:269880
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Na... ORPHA:1133
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Generalized non-motor (absence) seizure, Downtu... OMIM:617360
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures OMIM:264700
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Odontochondrodysplasia 1
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum OMIM:184260
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Seizure, Oligodonti... OMIM:224300
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... OMIM:619322
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Status epilepticus, Myoclonus OMIM:618201
Intellectual Developmental Disorder, Autosomal Dominant 22
Thin upper lip vermilion, Micrognathia, Generalized non-motor (absence) seizure, Seizure, Short p... OMIM:612337
Eiken Syndrome
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... OMIM:600002
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Mandibular prognathia, Exaggerated startle response, Chorea, Seizure, Status epilepticus, Short p... OMIM:617864
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Ataxia, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Advanced e... OMIM:617865
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth ORPHA:950
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... OMIM:218400
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Failure to thrive ORPHA:2315
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Infantile spasms, Action tremor, Chorea, Generalized non-motor (absenc... ORPHA:404454
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Bilateral tonic-clonic seizure, Micrognathia, Fo... OMIM:619297
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Lead Poisoning
Delayed eruption of teeth, Seizure, Somatic sensory dysfunction, Small for gestational age ORPHA:330015
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Tremor, Abnormality of the dentition, Gait ataxia, Eruption failur... ORPHA:476126
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizu... OMIM:614207
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Epileptic spasm, Infantile spasms, Micrognat... OMIM:247200
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Bilateral tonic-clonic seizure, Ataxia, Dental crowding, Delayed erupt... OMIM:617799
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Seizure, Conical incisor, Oligodon... OMIM:235510
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology ORPHA:1782
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Brachydactyly, Type B1
Delayed eruption of permanent teeth OMIM:113000
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Obesity, Sei... OMIM:610253
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Paresthesia, Myoclonic spasms, Enamel hypoplasia, Laryngeal dystonia, ... ORPHA:94089
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Ataxia, Abnor... ORPHA:438216
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Seizure, Thick vermilion border, Macrodontia of permanent maxillary... OMIM:620114
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... OMIM:607812
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Narrow palate, Seizure, Tooth agenesis, Multiple unerup... ORPHA:2063
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
De Barsy Syndrome
Delayed eruption of teeth, Small, conical teeth, Athetosis, Progressive cerebellar ataxia, High p... ORPHA:2962
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... ORPHA:2067
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures ORPHA:289157
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Selectiv... ORPHA:2909
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Small for gestational age, Advanced eruption of teeth OMIM:262190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Bilateral tonic-clonic seizure, Exaggerated cupid's bow, Micrognathia... ORPHA:369837
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... ORPHA:568
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Thick lower lip vermilion, Seizure, Macroglossia, Widely spaced teeth OMIM:309900
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia ORPHA:2484
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
3M Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... ORPHA:2616
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma... OMIM:101800
Spondyloenchondrodysplasia
Delayed eruption of teeth, Seizure, Chorea, Dental malocclusion ORPHA:1855
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Bilateral tonic-clonic seizure, Large for gestational age, Cleft lip, ... OMIM:280000
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Tay-Sachs Disease
Exaggerated startle response, Tremor, Typical absence seizure, Dysmetria, Seizure, Focal impaired... ORPHA:845
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia, Focal-onset seizure, Seizure, Status epilepticus OMIM:617802
Osteoglosphonic Dysplasia
Tooth agenesis, Multiple unerupted teeth, Failure to thrive in infancy, Micrognathia ORPHA:2645
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Obesity, Paresthesia, Myoclonic spasms, Enamel hypoplasia, Laryngeal d... ORPHA:79444
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern... OMIM:268400
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... ORPHA:534
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Cleft palate, Gingivitis, Abnormality of the dentition ORPHA:2314
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Retrognathia... OMIM:601812
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... OMIM:620370
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dental crowding, Micrognathia, Typical absence seizure, Seizure, Thin vermilion border, Short phi... OMIM:618343
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Narrow ... ORPHA:77301
Genitopatellar Syndrome
Delayed eruption of teeth, Seizure, Long philtrum, Micrognathia ORPHA:85201
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... ORPHA:1071
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth OMIM:620099
Gm2 Gangliosidosis, Ab Variant
Seizure, Chorea, Exaggerated startle response, Dystonia ORPHA:309246
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Protruding tongue, Focal-onset seizure, Generalized n... ORPHA:258
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... ORPHA:87
Barber-Say Syndrome
Delayed eruption of teeth, Failure to thrive, Wide mouth ORPHA:1231
Cockayne Syndrome B
Mandibular prognathia, Small for gestational age, Ataxia, Delayed eruption of primary teeth, Trem... OMIM:133540
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Sei... OMIM:259710
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Seizure, Dental crowding, Persistence of primary teeth OMIM:619769
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Deep philtrum, Focal motor seizure, Seizure, High palate, Febrile seiz... ORPHA:1675
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Marcus ... OMIM:118400
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Large for gestational age, Abnormality of the dentition, Thick lower lip vermilion, ... ORPHA:261652
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Obesity, Choreoathetosis, Paresthesia, Myoclonic spasms, Enamel hypopl... ORPHA:79443
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia ORPHA:2309
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... OMIM:225500
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume... ORPHA:2136
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Selective tooth agenesis, Bilateral tonic-clonic seizure,... OMIM:234100
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Bilateral tonic-clonic seizure, Micrognathia, Abnormality of the gin... ORPHA:513456
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi... OMIM:619269
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal... ORPHA:221016
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... OMIM:269300
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum ORPHA:263463
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... OMIM:122470
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... OMIM:119600
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Tonic s... OMIM:617281
Cockayne Syndrome A
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Tremor, Carious teeth, Dental m... OMIM:216400
Linear Skin Defects With Multiple Congenital Anomalies 3
Seizure, Failure to thrive, Delayed eruption of primary teeth OMIM:300952
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal... ORPHA:221008
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Seizure, High palate... OMIM:300867
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Failure to thrive, Eclabion OMIM:616395
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... OMIM:166250
Robinow Syndrome
Small for gestational age, Dental crowding, Micrognathia, Persistence of primary teeth, Dental ma... ORPHA:97360
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... ORPHA:464
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Increased body weight, Narrow jaw, Narrow palate, Sei... OMIM:117550
Weaver Syndrome
Mandibular prognathia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, S... OMIM:277590
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow... OMIM:135500
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Seizure, Decreased body weight OMIM:266270
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Tonic seizure, Carious teeth, High, narrow palate, Typical absence seiz... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 53
Wide mouth, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic... OMIM:617798
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Myoclonic seizure, Seizure, Dystonia OMIM:272750
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Abnormality of the dentition, Submucous cleft hard palat... ORPHA:235
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... OMIM:101200
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c... OMIM:223370
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic... OMIM:180700
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue... OMIM:268310
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Seizure, Everted l... ORPHA:96092
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure... ORPHA:466943
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Impaired pain sensation, Open bite, Hi... ORPHA:352665
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor... ORPHA:2215
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Incontinentia Pigmenti
Delayed eruption of teeth, Conical tooth, Seizure, Oligodontia, Hypodontia OMIM:308300
Cockayne Syndrome
Somatic sensory dysfunction, Ataxia, Abnormal dental morphology, Cachexia, Delayed eruption of pr... ORPHA:191
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Tented upper lip vermilion, Micrognathia... OMIM:617527
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia OMIM:259600
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Bent Bone Dysplasia Syndrome 1
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia OMIM:614592
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Osteogenesis Imperfecta
Delayed eruption of teeth, Somatic sensory dysfunction, Abnormality of dental color, Small for ge... ORPHA:666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Thin upper lip vermilion, Bilateral tonic-clonic seizure, Micrognathia, Tr... OMIM:612474
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Bilateral tonic-clonic seizure, Hamartoma of tongue, Micrognathia,... ORPHA:2751
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Sandhoff Disease
Exaggerated startle response, Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensat... OMIM:268800
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
Immunodeficiency 49
Seizure, Short philtrum, Natal tooth, Micrognathia OMIM:617237
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... ORPHA:521445
Carpenter Syndrome 1
Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Agenesis of perma... OMIM:201000
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Small for gestational age, Micrognathia, Truncal ataxia, ... OMIM:264090
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Codas Syndrome
Delayed eruption of teeth, Seizure, Enamel hypoplasia OMIM:600373
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Epileptic spasm, Failure to thrive in infancy, Micrognathia, Abnormali... ORPHA:798
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Seizure, Macroglossia, Carious teeth OMIM:253200
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malpositio... OMIM:309350
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:268261
Camurati-Engelmann Disease
Delayed eruption of teeth, Ataxia, Cachexia, Carious teeth, Craniofacial osteosclerosis, Slender ... ORPHA:1328
Doors Syndrome
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Short lingual frenulum, Abnormality of ... ORPHA:79500
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Tented upper lip vermilion, Micrognathia, Seizure, High palate, Dys... ORPHA:521426
Pitt-Hopkins Syndrome
Ataxia, Gait ataxia, Wide mouth, Seizure, Short philtrum, Thick vermilion border, Failure of erup... ORPHA:2896
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence... ORPHA:466950
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia ORPHA:949
Wrinkly Skin Syndrome
Delayed eruption of teeth, Carious teeth, Progressive cerebellar ataxia, Status epilepticus, High... ORPHA:2834
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... OMIM:300373
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Oral ulcer, Hypoglycemic seizures, Gingivitis, Delayed eruption of permanent teeth... ORPHA:79259
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer, Failure to thrive ORPHA:811
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Seizu... ORPHA:1465
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum OMIM:145420
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... ORPHA:740
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Hypodontia OMIM:601345
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Micrognathia OMIM:616901
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... OMIM:259775
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef... OMIM:619503
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Recurrent sinusitis ORPHA:293978
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Pain insensitivity, Bilateral tonic-clonic seizu... OMIM:620330
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Focal-onset seizure, Typical absence seizure, Obesity, Retrognathia, Thin vermil... OMIM:617157
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Conical tooth, Thick lower lip vermilion, Cl... OMIM:135900
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... OMIM:311300
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Seizure, Odontogenic keratocysts of the jaw ORPHA:199276
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth ORPHA:2348
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Gingival overgrowth ORPHA:508542
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Seizure, Tooth abscess ORPHA:289176
Asparagine Synthetase Deficiency
Exaggerated startle response, Micrognathia, Tremor, Clonic seizure, Seizure, Failure to thrive OMIM:615574
Cornelia De Lange Syndrome
Delayed eruption of teeth, Micrognathia, Cleft palate, Downturned corners of mouth, Truncal obesi... ORPHA:199
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Micrognathia, Submucous cleft hard palate, Generalized non-motor (absence) seizu... ORPHA:2636
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Seizure, Exaggerated startle response OMIM:272800
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum, Cleft palate OMIM:617337
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon... OMIM:278250
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Carpenter Syndrome 2
Carious teeth, High, narrow palate, Dental malocclusion, Generalized non-motor (absence) seizure,... OMIM:614976
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... ORPHA:769
Gapo Syndrome
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Seizure, Long phi... OMIM:230740
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Myoclonic seizure OMIM:620327
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif... OMIM:123790
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Cleft upper... ORPHA:828
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... OMIM:616300
Autosomal Recessive Malignant Osteopetrosis
Tremor, Premature loss of primary teeth, Delayed eruption of teeth ORPHA:667
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Atax... ORPHA:2152
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... ORPHA:818
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... ORPHA:2108
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Gingival overgrowth, Seizure, Macroglossia, Long philtrum ORPHA:79255
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Im... ORPHA:261537
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia OMIM:143095
Adnp Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Truncal obesity, Seizure, Advanced eruption ... ORPHA:404448
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Failure to thrive in infancy, Hypoplasia of the maxilla, Generalized n... ORPHA:500150
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... ORPHA:2785
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Small for gestational age, Hypoplasia of the nas... ORPHA:93357
Charge Syndrome
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl... ORPHA:138
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormality of the dentition ORPHA:2036
Focal Dermal Hypoplasia
Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Oligodontia, Hypod... OMIM:305600
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... OMIM:612651
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Im... ORPHA:261552
Sotos Syndrome
Bilateral tonic-clonic seizure, Abnormality of the dentition, Tremor, No permanent dentition, Gen... ORPHA:821
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia ORPHA:280365
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... ORPHA:353281
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Retrognathia OMIM:617301
Opitz Gbbb Syndrome
Natal tooth, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Long philtrum, Ankyl... ORPHA:2745
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Seizure, Microglossia OMIM:146510
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth OMIM:609638
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate OMIM:269860
Familial Adenomatous Polyposis 1
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma OMIM:175100
Mowat-Wilson Syndrome
Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Seizure, Widely spaced teet... OMIM:235730
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Ataxia, Abnormality of the dentition, Tremor, Narrow mouth... ORPHA:3455
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate ORPHA:158687
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Gingival overgrowth, Micrognathia ORPHA:313855
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening ORPHA:50945
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tonic seizure, Seizure, Atonic seizure, Focal emotional seizure wit... OMIM:618367
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Seizure, Exaggerated startle response OMIM:253800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353277
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
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Calvarial osteosclerosis, Hypocalcemic seizures, Persistence of primary teeth ORPHA:93325
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate OMIM:617925
Floating-Harbor Syndrome
Small for gestational age, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... ORPHA:2044
Gardner Syndrome
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition ORPHA:79665
Familial Adenomatous Polyposis
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... ORPHA:733
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Ob... OMIM:601803
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L... OMIM:249000
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... OMIM:615948
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate OMIM:272460
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure ORPHA:77293
Specc1L-Related Hypertelorism Syndrome
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... ORPHA:1519
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... OMIM:182250
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia OMIM:606170
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Exaggerated startle response, Deep philtrum, Retrognathia, Seizure, Myoclonus, D... ORPHA:438213
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Accessory oral frenulum, Large for gestational age, Cleft lip, Cl... ORPHA:672
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow... OMIM:275210
Restrictive Dermopathy
Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow... ORPHA:1662
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Carious teeth, Downturned corners of mouth, Seizure, High palate, T... OMIM:619522
Alström Syndrome
Somatic sensory dysfunction, Abnormality of dental color, Ataxia, Typical absence seizure, Obesit... 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.

Order Mouse and ES Cells

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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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