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Gene: Dmrt3 MGI:2449470

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

doublesex and mab-3 related transcription factor 3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dmrt3 mutations

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

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

Human diseases associated with Dmrt3 (1 diseases)
Human diseases predicted to be associated with Dmrt3 (454 diseases)

The table below shows human diseases associated to Dmrt3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
46,Xy Partial Gonadal Dysgenesis		Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510

The table below shows human diseases predicted to be associated to Dmrt3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chorea, Benign Hereditary	Chorea, Gait disturbance, Frequent falls	OMIM:118700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Paroxysmal Non-Kinesigenic Dyskinesia	Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi...	ORPHA:98810
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax...	ORPHA:95434
Dentatorubral-Pallidoluysian Atrophy	Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis	OMIM:125370
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Ataxia	OMIM:618425
Primary Lateral Sclerosis, Adult, 1	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ...	OMIM:611637
Paroxysmal Exertion-Induced Dyskinesia	Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Involuntary movements, Ataxia, Choreoatheto...	ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial	Babinski sign, Difficulty walking, Chorea, Incoordination, Poor motor coordination, Frequent fall...	OMIM:500003
Huntington Disease-Like 2	Chorea, Parkinsonism, Gait disturbance, Involuntary movements	ORPHA:98934
Juvenile Primary Lateral Sclerosis	Spastic gait, Spastic dysarthria, Gait imbalance, Abnormal upper motor neuron morphology, Spastic...	ORPHA:247604
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Gait ataxia, Unsteady gait, Dental malocclusion	OMIM:618292
Episodic Kinesigenic Dyskinesia 2	Paroxysmal dyskinesia, Chorea, Involuntary movements	OMIM:611031
3-Methylglutaconic Aciduria, Type Iii	Babinski sign, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Ataxia	OMIM:258501
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus, Thin upper lip vermilion, Hyperplasia of ...	OMIM:618587
Developmental And Epileptic Encephalopathy 37	Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Gait disturbance, Rigidity, Myoclo...	OMIM:616981
Huntington Disease-Like 1	Chorea, Incoordination, Rigidity, Unsteady gait, Dysmetria	OMIM:603218
Spinocerebellar Ataxia Type 2	Progressive cerebellar ataxia, Fasciculations, Chorea, Spinal cord posterior columns myelin loss,...	ORPHA:98756
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair...	DECIPHER:29
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance	OMIM:607674
Choreoathetosis, Familial Inverted	Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance	OMIM:118750
Dystonia 3, Torsion, X-Linked	Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication, Myoclonus	OMIM:314250
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent falls, Gait disturbance, Rig...	ORPHA:216873
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Ataxia, Dental malocclusion, Tongue atrophy	OMIM:141300
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Inability to walk, Chorea, Gait ataxia, Ataxia, Dysmetria	OMIM:618501
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Parkinso...	OMIM:213600
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Paroxysmal Kinesigenic Dyskinesia	Chorea, Athetosis, Involuntary movements	ORPHA:98809
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Ataxia, Dental malocclusion	OMIM:619692
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Paroxysmal dyskinesia, Falls, Chorea, Ataxia, Poor coordination	OMIM:619150
Gordon Holmes Syndrome	Chorea, Ataxia, Hypogonadotropic hypogonadism	OMIM:212840
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ...	ORPHA:397946
Infantile Convulsions And Choreoathetosis	Paroxysmal dyskinesia, Chorea, Athetosis, Involuntary movements, Choreoathetosis	ORPHA:31709
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu...	ORPHA:71277
Dystonia 37, Early-Onset, With Striatal Lesions	Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Choreoathetosis	OMIM:620427
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Chorea, Positive Romberg sign, Gait ataxia,...	OMIM:607136
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Chorea, Inability to walk	OMIM:618760
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance	ORPHA:67047
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Bradykinesia, Chorea, Ataxia, Parkinsonism, Abnormal pyramidal sign, Dysmetria, Slurred speech, H...	OMIM:618317
Familial Dyskinesia And Facial Myokymia	Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Myoclonus	ORPHA:324588
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Tremor, Gait ataxia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Huntington Disease	Bradykinesia, Chorea, Rigidity, Gait ataxia	OMIM:143100
Sydenham Chorea	Hemiballismus, Unsteady gait, Chorea	ORPHA:306731
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Developmental And Epileptic Encephalopathy 17	Chorea, Athetosis, Inability to walk	OMIM:615473
Primary Lateral Sclerosis, Juvenile	Spastic gait, Babinski sign, Spastic dysarthria, Appendicular spasticity, Abnormal upper motor ne...	OMIM:606353
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Gait ataxia, Rigidity, Ata...	ORPHA:248111
Chorea, Benign Familial	Chorea	OMIM:215450
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements	OMIM:620245
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Spinocerebellar Ataxia 50	Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor	OMIM:620158
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Gait disturbance, Action myoclonus, Myoclonus, Choreoathetosis	OMIM:616230
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Myoclonus,...	OMIM:606703
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Basal Ganglia Calcification, Idiopathic, 5	Chorea, Athetosis, Parkinsonism, Postural tremor, Hand tremor	OMIM:615483
Birk-Aharoni Syndrome	Inability to walk, Chorea, Micrognathia, Spastic tetraplegia, Cryptorchidism, Micropenis	OMIM:620071
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Chorea, Malar prominence, Intention tremor, Micrognathia, Ataxia, Abnormal pyramidal sign, Hypogo...	ORPHA:48431
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Ataxia-Telangiectasia-Like Disorder	Oculomotor apraxia, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxia, Hypergonadotropic hy...	ORPHA:251347
Proximal Myopathy With Extrapyramidal Signs	Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun...	ORPHA:401768
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Ataxia, Unsteady gait...	ORPHA:79263
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig...	ORPHA:53351
Guanidinoacetate Methyltransferase Deficiency	Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressive extrapyramidal movem...	ORPHA:382
Ataxia-Telangiectasia-Like Disorder 1	Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxi...	OMIM:604391
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Developmental And Epileptic Encephalopathy 78	Chorea, Spasticity, Inability to walk, Cerebral palsy	OMIM:618557
Pontocerebellar Hypoplasia, Type 2C	Chorea	OMIM:612390
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Rigidity, At...	OMIM:617672
Spinocerebellar Ataxia Type 17	Torticollis, Chorea, Spasticity, Blepharospasm, Gait disturbance, Involuntary movements, Rigidity...	ORPHA:98759
Developmental And Epileptic Encephalopathy 6B	Hyperkinetic movements, Inability to walk, Chorea, Narrow mouth, Ataxia, Myoclonus, Choreoathetosis	OMIM:619317
Pontocerebellar Hypoplasia, Type 2D	Spastic tetraplegia, Chorea, Clonus, Appendicular spasticity	OMIM:613811
Alternating Hemiplegia Of Childhood 2	Tetraplegia, Ataxia, Episodic quadriplegia, Hemiplegia, Choreoathetosis	OMIM:614820
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Abnormality of extrapyramidal motor func...	ORPHA:13
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Chorea, Athetosis, Choreoathetosis	OMIM:309541
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spastic...	ORPHA:500180
Basal Ganglia Calcification, Idiopathic, 6	Choreoathetosis, Parkinsonism, Involuntary movements	OMIM:616413
Alternating Hemiplegia Of Childhood 1	Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia	OMIM:104290
Amyotrophic Lateral Sclerosis 16, Juvenile	Loss of ambulation, Amyotrophic lateral sclerosis, Lower limb spasticity	OMIM:614373
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Spasticity, Gait ataxia, Cryptorchidism	OMIM:618917
Huntington Disease-Like 3	Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r...	ORPHA:157946
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai...	OMIM:208920
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Widely spaced teeth, Lower limb spasticity, Chorea, Waddling gait, Gait ataxia, Smooth philtrum	OMIM:620445
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F...	ORPHA:2590
Huntington Disease-Like 3	Abnormality of extrapyramidal motor function, Chorea, Spasticity, Ataxia, Unsteady gait, Abnormal...	OMIM:604802
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Hyperkinetic movements, Inability to walk, Chorea, Spasticity, Myoclonus	OMIM:614254
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici...	ORPHA:35689
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Ataxia, Parkinsonism	OMIM:619738
Spinocerebellar Ataxia 47	Chorea, Spasticity, High palate, Ataxia, Dysmetria	OMIM:617931
Neurodevelopmental Disorder With Involuntary Movements	Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements	OMIM:617493
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Babinski sign, Hypertonia, Short philtrum, Chorea, Spasticity, Cerebral palsy, Choreoathetosis	OMIM:618451
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Fasciculations, Amyotrophic lateral sclerosis, Gait disturbance	OMIM:608030
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Paroxysmal dyskinesia, Babinski sign, Chorea, Spasticity, Athetosis, Blepharospasm, Gait disturba...	OMIM:617282
Developmental And Epileptic Encephalopathy 27	Chorea, Spasticity, Myoclonus	OMIM:616139
Huntington Disease	Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Inability to walk, Chorea, Poor ...	ORPHA:399
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign, Choreoatheto...	ORPHA:53583
Spinocerebellar Ataxia 1	Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Dorsal column...	OMIM:164400
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Spinocerebellar Ataxia Type 1	Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalance, Fasciculati...	ORPHA:98755
Huntington Disease-Like 1	Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent falls, Gait ataxia, ...	ORPHA:157941
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Spasticity, Gait ataxia, Intention tremor, Ataxia, Hypogo...	OMIM:215470
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis	OMIM:128200
Paroxysmal Nonkinesigenic Dyskinesia 1	Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Limb hypertonia, Delayed eruption of teeth, Spasticity, Involuntary move...	OMIM:615905
Friedreich Ataxia	Limb ataxia, Babinski sign, Impaired proprioception, Gait imbalance, Inability to walk, Falls, Ch...	ORPHA:95
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Chorea, Difficulty walking, Waddling gait, Truncal ataxia	ORPHA:369840
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Babinski sign, Chorea, Malar prominence, Abnormality of the dentition, Hypergonadotropic hypogona...	OMIM:604168
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Hypertonia, Difficulty walking, Inability to walk, Lower limb spasticity, Retrocoll...	ORPHA:300605
Glut1 Deficiency Syndrome 1	Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis	OMIM:606777
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Ataxia, Parkinsonism, ...	OMIM:619725
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Babinski sign, Positive Romberg sign, Spasticity, Ataxia, Loss of ambulation, Choreoathetosis, Dy...	OMIM:618088
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Paroxysmal dyskinesia, Chorea	ORPHA:79137
Mcdonough Syndrome	Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Micrognathia, Denta...	ORPHA:2471
Schimke X-Linked Mental Retardation Syndrome	Spasticity, Choreoathetosis	OMIM:312840
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Clcn4-Related X-Linked Intellectual Disability Syndrome	Progressive cerebellar ataxia, Lower limb spasticity, Chorea, Upper limb spasticity, Unsteady gai...	ORPHA:485350
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus	OMIM:617235
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Spastic Paraplegia 86, Autosomal Recessive	Babinski sign, Inability to walk, Spastic paraplegia, Ataxia, Choreoathetosis	OMIM:619735
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Fasciculations, Tongue fasciculations, Loss of ambulation, Amyotrophic lateral sclerosis, Tongue ...	OMIM:613435
Huntington Disease-Like 2	Action tremor, Chorea, Rigidity, Bradykinesia	OMIM:606438
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity, Ataxia, Parkins...	OMIM:606159
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, High...	OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking	OMIM:611067
Baker-Gordon Syndrome	Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Ataxia...	OMIM:618218
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Frequent falls, Ataxia, Unsteady gait, Myoclonus, Choreoathetosis	OMIM:301020
Folinic Acid-Responsive Seizures	Hypertonia, Difficulty walking, Broad-based gait, Chorea, Spastic tetraparesis, Ataxia	ORPHA:79097
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Infantile Dystonia-Parkinsonism	Bradykinesia, Hypertonia, Limb hypertonia, Chorea, Cerebral palsy, Parkinsonism, Abnormal pyramid...	ORPHA:238455
Fanconi Anemia, Complementation Group S	Narrow palate, Ovarian neoplasm, Dental malocclusion, Thick upper lip vermilion, Ataxia, Ovarian ...	OMIM:617883
Neurodevelopmental Disorder With Dystonia And Seizures	Spastic tetraplegia, Chorea, Athetosis	OMIM:619922
Polyglucosan Body Neuropathy, Adult Form	Distal sensory impairment, Abnormal upper motor neuron morphology, Gait disturbance, Spastic para...	OMIM:263570
Striatonigral Degeneration, Infantile	Spasticity, Choreoathetosis	OMIM:271930
Amyotrophic Lateral Sclerosis 2, Juvenile	Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth...	OMIM:205100
Aceruloplasminemia	Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwheel rigidi...	OMIM:604290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Inability to walk, Chorea, Spasticity, Ataxia, Abnormal reproductive system morphology	ORPHA:70472
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Frequent falls, Gait at...	OMIM:607483
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Pallor of dorsal columns of the spinal cord, Atrophy of the sp...	OMIM:602433
Developmental And Epileptic Encephalopathy 64	Thick lower lip vermilion, Widely spaced teeth, Inability to walk, Limb hypertonia, Chorea, Hemip...	OMIM:618004
Early-Onset X-Linked Optic Atrophy	Babinski sign, Dysdiadochokinesis, Intention tremor, Gait ataxia, Choreoathetosis	ORPHA:98890
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Familial Infantile Bilateral Striatal Necrosis	Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee...	ORPHA:225154
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Babinski sign, Difficulty walking, Lower limb spasticity, Fasciculations, Tetraparesis, Spasticit...	OMIM:613954
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna...	OMIM:613684
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa...	ORPHA:275872
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, High palate, Waddling gait, Bifid uvula, Hypodontia, Dental malocclusion	OMIM:612350
Intellectual Developmental Disorder, Autosomal Recessive 58	Choreoathetosis, Spastic diplegia	OMIM:617270
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Widely spaced teeth, Hypospadias, Lower limb spasticity, Inability to walk, Chorea, Progressive s...	OMIM:300260
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cogwheel rigidity, Rigidity, Pa...	OMIM:613135
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Hypertonia, Inability to walk, Short philtrum, Chorea, Spasticity, Mandibular prognathia, Exagger...	OMIM:617864
Systemic Lupus Erythematosus 17	Chorea, Oral ulcer, Myelitis	OMIM:301080
Myopathy With Extrapyramidal Signs	Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, Frequent falls,...	OMIM:615673
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea, Genital ulcers, Oral ulcer	OMIM:616744
Hyperphenylalaninemia, Bh4-Deficient, C	Choreoathetosis, Hypertonia, Tremor, Myoclonus	OMIM:261630
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Sporadic Infantile Bilateral Striatal Necrosis	Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor...	ORPHA:225147
Developmental And Epileptic Encephalopathy 40	Spasticity, Choreoathetosis, Spastic tetraparesis, Myoclonus	OMIM:617065
Leukodystrophy, Hypomyelinating, 16	Hypertonia, Broad-based gait, Shuffling gait, Intention tremor, Gait ataxia, Abnormal pyramidal s...	OMIM:617964
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal choreoathetosis	OMIM:602066
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Sneddon Syndrome	Chorea, Hemiparesis, Tremor	ORPHA:820
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Chorea, Retrognathia, Deep philtrum, Mandibular prognathia	OMIM:620535
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Abnormality of the dentition, Dental malocclusion	ORPHA:1858
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat...	ORPHA:726
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, High palate, Narrow mouth, Spina bifida, Downturned corners of ...	ORPHA:1327
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Hypertonia, External genital hypoplasia, Lower limb spasticity, Short philtrum, Broad-based gait,...	ORPHA:251028
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Gingival overgrowth, Open bite, Ma...	ORPHA:61
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Incoordination, Poor fine motor coordination, Micrognathia, Malar flattening, Dental malocclusion...	ORPHA:436245
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Chorea, Spasticity, Cryptorchidism	OMIM:613970
Mepan Syndrome	Chorea, Spasticity, Gait disturbance, Ataxia, Myoclonus	ORPHA:508093
Intellectual Disability, Buenos-Aires Type	Spastic gait, Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, Dental m...	ORPHA:3079
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Babinski sign, Torticollis, Frequent falls, Ataxia, Choreoathetosis	OMIM:619054
Hsd10 Disease	Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis	ORPHA:391417
X-Linked Creatine Transporter Deficiency	Hypertonia, Chorea, Athetosis, Ataxia, Malar flattening, Open mouth	ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, High palate, Shufflin...	OMIM:300055
Mitochondrial Dna Depletion Syndrome 17	Hemiballismus, Spastic tetraparesis, Chorea	OMIM:618567
Oculorenocerebellar Syndrome	Choreoathetosis, Spastic diplegia	OMIM:257970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Chorea, Choreoathetosis, Hemiplegia/hemiparesis	ORPHA:289916
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Spasticity, Choreoathetosis	OMIM:614249
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Incisor macrodontia, Thin upper lip vermilion, Widely-spaced maxillary centr...	OMIM:619719
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Abnormal upper motor neuron mo...	OMIM:601162
Potocki-Lupski Syndrome	Dental crowding, Mandibular prognathia, High palate, Micrognathia, Wide mouth, Smooth philtrum, D...	OMIM:610883
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Mulibrey Nanism	Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo...	OMIM:253250
Dystonia 9	Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia	OMIM:601042
Progeria-Short Stature-Pigmented Nevi Syndrome	Fragile teeth, Hypospadias, Broad-based gait, Selective tooth agenesis, Hypergonadotropic hypogon...	ORPHA:2959
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Developmental And Epileptic Encephalopathy 110	Chorea, Spasticity, High palate, Tented upper lip vermilion, Pain insensitivity	OMIM:620149
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,...	ORPHA:101
Cri-Du-Chat Syndrome	Orofacial cleft, Hypertonia, Thick lower lip vermilion, Difficulty walking, Hypospadias, Short ph...	OMIM:123450
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Hypospadias, Short philtrum, Labial hypoplasia, Exaggerated cupid's bow, Mic...	OMIM:619293
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Hypoplasia of penis, Bifid scrotum, Everted lower lip vermilion, Abnor...	ORPHA:85321
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Ritscher-Schinzel Syndrome 4	Narrow palate, Short philtrum, Chorea, Athetosis, High palate, Ataxia, Wide mouth, Thick vermilio...	OMIM:619435
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati...	OMIM:606002
Metachromatic Leukodystrophy	Babinski sign, Chorea, Tetraplegia, Gait disturbance, Ataxia, Spastic tetraplegia	OMIM:250100
Pontocerebellar Hypoplasia, Type 8	Hypertonia, Chorea, Spasticity, Involuntary movements, Gait ataxia, Tented upper lip vermilion	OMIM:614961
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Gait disturbance, Myo...	OMIM:221770
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G...	OMIM:618877
Robinow Syndrome, Autosomal Dominant 2	Calvarial osteosclerosis, Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Ging...	OMIM:616331
Neuroferritinopathy	Bradykinesia, Babinski sign, Difficulty walking, Resting tremor, Chorea, Blepharospasm, Involunta...	ORPHA:157846
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Hyperkinetic movements, Inability to walk, Myoclonus	OMIM:618497
Aceruloplasminemia	Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Gait ataxia, Involuntary movem...	ORPHA:48818
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Inability to walk, Chorea, Mandibular prognathia, High palate, Everted lower lip vermilion, Invol...	OMIM:617804
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus	OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive 31	Retrognathia, Gingival overgrowth, Tremor, High palate, Ataxia, Smooth philtrum, Choreoathetosis	OMIM:619422
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Opisthotonus, Parkinsonism, Choreoa...	OMIM:619653
Takenouchi-Kosaki Syndrome	Widely spaced teeth, Hypospadias, Short philtrum, Downturned corners of mouth, Wide mouth, Ataxia...	OMIM:616737
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Fasciculations, Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron m...	OMIM:602099
Hallermann-Streiff Syndrome	Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Selective tooth a...	OMIM:234100
Lesch-Nyhan Phenotype With Normal Hgprt	Spasticity, Choreoathetosis	OMIM:308950
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Mandibular condyle hypoplasia, Gloss...	ORPHA:137888
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis	OMIM:612126
Beaulieu-Boycott-Innes Syndrome	Endometriosis, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion	OMIM:613680
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Hypospadias, Endometriosis, Thin lower lip vermilion, Abnormality of the dentition,...	ORPHA:363444
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hypertonia, Inability to walk, High palate, Rigidity, Choreoathetosis	OMIM:620023
Neurodegeneration With Brain Iron Accumulation 2B	Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Gait ataxia, Int...	OMIM:610217
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Ataxia, Parkinsonism, Choreoathetosis	OMIM:261640
Rheumatic Fever	Hemiballismus, Fasciculations, Chorea, Gait disturbance, Sinusitis	ORPHA:3099
Intermediate Osteopetrosis	Abnormal dental morphology, Dental malocclusion, Osteosclerosis of the base of the skull, Abnorma...	ORPHA:210110
Nasu-Hakola Disease	Chorea, Spasticity, Oculomotor apraxia	ORPHA:2770
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin...	OMIM:257850
Pycnodysostosis	Obtuse angle of mandible, High palate, Upper motor neuron dysfunction, Abnormality of the dentiti...	ORPHA:763
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Chorea, Bilateral cleft palate, High palate, Hemiparesis, Micrognathia, Bi...	OMIM:618829
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Abnormal external ge...	ORPHA:3473
Myopathy, Myofibrillar, 8	Micrognathia, High palate, Frequent falls, Dental malocclusion	OMIM:617258
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Subacute Inflammatory Demyelinating Polyneuropathy	Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Freq...	ORPHA:206594
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism	OMIM:105500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ataxia, Tremor, At...	OMIM:615356
Developmental And Epileptic Encephalopathy 84	Babinski sign, Thick lower lip vermilion, Chorea, Spasticity, Opisthotonus, Smooth philtrum	OMIM:618792
Lessel-Kreienkamp Syndrome	Dental malocclusion, Thin upper lip vermilion, Open mouth	OMIM:619149
Leukodystrophy, Hypomyelinating, 6	Oculomotor apraxia, Spasticity, Tremor, Rigidity, Ataxia, Choreoathetosis	OMIM:612438
Pandas	Clumsiness, Chorea	ORPHA:66624
Phelan-Mcdermid Syndrome	Widely spaced teeth, Broad-based gait, Impaired pain sensation, High palate, Micrognathia, Unstea...	OMIM:606232
Chromosome 18Q Deletion Syndrome	Hypospadias, Short philtrum, Broad-based gait, Chorea, Mandibular prognathia, Tremor, Cleft upper...	OMIM:601808
Pontocerebellar Hypoplasia, Type 2B	Babinski sign, Limb hypertonia, Chorea, Spasticity, Clonus, Opisthotonus, Extrapyramidal dyskinesia	OMIM:612389
Developmental And Epileptic Encephalopathy 74	Choreoathetosis	OMIM:618396
Seckel Syndrome 1	Clitoral hypertrophy, Hypospadias, Dental crowding, Selective tooth agenesis, High palate, Enamel...	OMIM:210600
Brain-Lung-Thyroid Syndrome	Hypospadias, Apraxia, Falls, Hypodontia, Chorea, Incoordination, Intention tremor, Involuntary mo...	ORPHA:209905
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Leukodystrophy, Hypomyelinating, 4	Babinski sign, Progressive spasticity, Spastic paraplegia, Head titubation, Choreoathetosis	OMIM:612233
Muenke Syndrome	Dental malocclusion, High palate, Malar flattening	OMIM:602849
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Fasciculations, Waddling gait, Upper motor neuron dysfunction, ...	ORPHA:52430
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Sulfite Oxidase Deficiency, Isolated	Hypertonia, Delayed eruption of teeth, Ataxia, Hemiplegia, Choreoathetosis	OMIM:272300
Pyruvate Dehydrogenase Deficiency	Long philtrum, Spasticity, Tremor, High palate, Cerebral palsy, Gait disturbance, Ataxia, Abnorma...	ORPHA:765
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	External genital hypoplasia, High palate, Micrognathia, Dental malocclusion, Deep philtrum, Thin ...	ORPHA:329178
D-Glyceric Aciduria	Chorea, Spasticity, Myoclonus	ORPHA:941
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o...	ORPHA:2980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Anterior open-bite malocclusion, Dental crowding, High palate, Everted lowe...	OMIM:617877
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Head tremor, Ataxia, Abnormal pyramidal sign, ...	ORPHA:64753
Developmental And Epileptic Encephalopathy 1	Hypertonia, Erratic myoclonus, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Mi...	OMIM:308350
Leukodystrophy, Hypomyelinating, 2	Babinski sign, Progressive spasticity, Intention tremor, Rigidity, Head titubation, Ataxia, Spast...	OMIM:608804
Foxg1 Syndrome	Hyperkinetic movements, Difficulty walking, Inability to walk, Spasticity, Myoclonus, Choreoathet...	ORPHA:561854
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum...	OMIM:157980
Metachromatic Leukodystrophy, Adult Form	Babinski sign, Difficulty walking, Chorea, Spasticity, Decerebrate rigidity, Frequent falls, Inte...	ORPHA:309271
3-Methylglutaconic Aciduria, Type Ix	Hypertonia, Spasticity, High palate, Clonus, Choreoathetosis	OMIM:617698
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Choreoathetosis, Ataxia, Frequent falls	OMIM:618416
Gm2 Gangliosidosis, Ab Variant	Abnormal pyramidal sign, Chorea, Progressive spastic quadriplegia, Exaggerated startle response	ORPHA:309246
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Apraxia, Tetraparesis, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Abnormal lower motor...	OMIM:105550
X-Linked Intellectual Disability, Schimke Type	Spasticity, Choreoathetosis, High palate	ORPHA:85285
Cimdag Syndrome	Chorea, Spasticity, Ataxia, Hypogonadism	OMIM:619273
Three M Syndrome 2	Delayed eruption of teeth, High palate, Thick vermilion border, Malar flattening, Long philtrum, ...	OMIM:612921
7Q11.23 Microduplication Syndrome	Thin vermilion border, Retrognathia, Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Short...	ORPHA:96121
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Spasticity, Choreoathetosis	OMIM:618238
Pontocerebellar Hypoplasia, Type 7	Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, High palate, Spastic paraplegi...	OMIM:614969
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnormal pyramidal sign, ...	OMIM:272750
Harrod Syndrome	Hypospadias, Narrow mouth, High palate, Dental malocclusion, Cryptorchidism	ORPHA:2115
Snijders Blok-Fisher Syndrome	Spasticity, Cryptorchidism, Opisthotonus, Choreoathetosis	OMIM:618604
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypoplasia, Malar f...	OMIM:618727
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Cryptorchidism, High palate	OMIM:310400
46,Xy Ovotesticular Difference Of Sex Development	Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita...	ORPHA:325345
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus	OMIM:617600
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thick upper lip vermilion, Smo...	ORPHA:2563
Cockayne Syndrome A	Mandibular prognathia, Tremor, Gait disturbance, Carious teeth, Hypoplasia of teeth, Enamel hypop...	OMIM:216400
Trichorhinophalangeal Syndrome, Type I	Narrow palate, Delayed eruption of teeth, Microdontia, Carious teeth, Micrognathia, Deep philtrum...	OMIM:190350
Episodic Ataxia Type 1	Tip-toe gait, Hypertonia, Poor coordination, Clumsiness, Choreoathetosis	ORPHA:37612
Alexander Disease	Chorea, Tetraplegia, Tremor, Spasticity, High palate, Gait disturbance, Clonus, Precocious pubert...	ORPHA:58
Allan-Herndon-Dudley Syndrome	Babinski sign, Limb hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Choreoa...	ORPHA:59
Glutaryl-Coa Dehydrogenase Deficiency	Chorea, Tremor, Athetosis, Poor motor coordination, Rigidity, Ataxia	ORPHA:25
Multiple Pterygium Syndrome, Escobar Variant	Absence of labia majora, Hypospadias, Triangular mouth, High palate, Narrow mouth, Gait disturban...	OMIM:265000
Short Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Ovarian cyst, Hypodontia, D...	OMIM:269880
Developmental And Epileptic Encephalopathy 29	Chorea, Spasticity, Blepharospasm	OMIM:616339
Martin-Probst Syndrome	Thick lower lip vermilion, Bifid scrotum, Chordee, Micrognathia, Wide mouth, Malar flattening, De...	OMIM:300519
Larsen-Like Syndrome	Dental malocclusion, Cleft palate, Malar flattening	OMIM:608545
Van Maldergem Syndrome 2	Hypospadias, Bifid scrotum, High palate, Irregular dentition, Hypoplasia of the maxilla, Downturn...	OMIM:615546
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Episodic ataxia, Myoclonus, Long philtrum, Choreoathetosis	OMIM:312170
Robinow Syndrome	Broad alveolar ridges, Dental crowding, Long philtrum, Small scrotum, External genital hypoplasia...	ORPHA:97360
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Hsd10 Mitochondrial Disease	Spastic tetraplegia, Spasticity, Choreoathetosis	OMIM:300438
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance...	OMIM:614298
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Tremor, Exaggerated cupid's bow, Rigidity, Dow...	ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Chorea, Gait ataxia, Ataxia, Myoclonus, Spastic tetraplegia	OMIM:618321
Developmental And Epileptic Encephalopathy 100	Chorea, Gingival overgrowth, High palate, Microdontia, Gait ataxia, Protruding tongue, Enamel hyp...	OMIM:619777
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Hypop...	OMIM:209885
Pontocerebellar Hypoplasia, Type 2A	Chorea, Opisthotonus, Extrapyramidal dyskinesia	OMIM:277470
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Anterior open-bite malocclusion	ORPHA:83601
Hamamy Syndrome	Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Micrognathia, Wide mouth...	OMIM:611174
Spondyloenchondrodysplasia	Chorea, Spasticity, Dental malocclusion, Delayed eruption of teeth	ORPHA:1855
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Penoscrotal hypospadias, Hyp...	OMIM:211380
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Choreoathetosis	OMIM:233910
Cockayne Syndrome	Hypertonia, Difficulty walking, Inability to walk, Limb hypertonia, Spasticity, Gait disturbance,...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 27	Tetraparesis, Chorea, Opisthotonus, Myoclonus	OMIM:616672
Schwartz-Jampel Syndrome	Supernumerary tooth, Hypertonia, Trismus, Blepharospasm, Everted lower lip vermilion, Narrow mout...	ORPHA:800
Rett Syndrome, Congenital Variant	Apraxia, Chorea, Spasticity, Athetosis, Thin upper lip vermilion	OMIM:613454
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Van Maldergem Syndrome 1	Hypospadias, High palate, Irregular dentition, Hypoplasia of the maxilla, Downturned corners of m...	OMIM:601390
Spastic Paralysis, Infantile-Onset Ascending	Babinski sign, Tetraplegia, Spastic paraplegia, Spastic tetraplegia, Abnormal lower motor neuron ...	OMIM:607225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Inability to walk, Impaired pain sensation, Abnormality of primary teeth, Op...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Inability to walk, Impaired pain sensation, Abnormality of primary teeth, Op...	ORPHA:352665
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Ataxia, Oculomotor apraxia	OMIM:245348
Robinow Syndrome, Autosomal Dominant 3	Triangular mouth, Dental malocclusion, Gingival overgrowth, Cryptorchidism, Clitoral hypoplasia, ...	OMIM:616894
Noonan Syndrome 4	Dental malocclusion, Cryptorchidism, Wide mouth, Thick vermilion border	OMIM:610733
Pelizaeus-Merzbacher Disease	Inability to walk, Broad-based gait, Tremor, Intention tremor, Spastic paraplegia, Head titubatio...	OMIM:312080
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Chorea, Inability to walk	ORPHA:268
Cardiofaciocutaneous Syndrome 1	Hypertonia, Oculomotor apraxia, Open bite, High palate, Abnormality of the dentition, Submucous c...	OMIM:115150
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Abnormal testis morphology, Precocious puberty, Ovarian cyst...	ORPHA:562
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Micrognathia, Long philtrum, Dental malocclusion, Cryptorchidism, Macrodontia of...	ORPHA:444072
Rubinstein-Taybi Syndrome 1	Retrognathia, Incoordination, Dental crowding, Premature thelarche, Narrow palate, Hypospadias, T...	OMIM:180849
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Ataxia, Smooth philtrum, ...	ORPHA:522077
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Cockayne Syndrome B	Mandibular prognathia, Tremor, Carious teeth, Hypoplasia of teeth, Ataxia, Dental malocclusion, C...	OMIM:133540
Kabuki Syndrome 2	High palate, Micrognathia, Cleft palate, Natal tooth, Hypodontia, Lower lip pit, Dental malocclusion	OMIM:300867
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Hypogonadism, Hypodo...	OMIM:101800
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, C...	OMIM:603457
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Tremor, Inability to walk, Choreoathetosis	OMIM:617664
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Absent frontal sinuses, Selective tooth agenesis, High palate, Persist...	OMIM:305620
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Leigh Syndrome	Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Athetos...	ORPHA:506
Congenital Myopathy 17	Mandibular prognathia, High palate, Cleft palate, Tented upper lip vermilion, Smooth philtrum, Na...	OMIM:618975
Au-Kline Syndrome	Retrognathia, Syringomyelia, Oligodontia, High palate, Downturned corners of mouth, Bifid uvula, ...	OMIM:616580
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Malar flattening, Dental malocclusion	OMIM:608257
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Limb hypertonia	OMIM:618247
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia	OMIM:615560
Osteogenesis Imperfecta	Syringomyelia, Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel mor...	ORPHA:666
Osteopathia Striata With Cranial Sclerosis	Thick lower lip vermilion, Spina bifida occulta, Dental malocclusion, Dental crowding, High palat...	OMIM:300373
Progressive Non-Fluent Aphasia	Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Parkinsonis...	ORPHA:100070
Sclerosteosis 1	Tooth malposition, Mandibular prognathia, Malar flattening, Facial palsy secondary to cranial hyp...	OMIM:269500
Jaberi-Elahi Syndrome	Inability to walk, Triangular mouth, Appendicular spasticity, Broad-based gait, Tremor, Gait atax...	OMIM:617988
Cerebellofaciodental Syndrome	Dental malocclusion, Cryptorchidism, Macrodontia of permanent maxillary central incisor, Taurodontia	OMIM:616202
Vitamin B12-Unresponsive Methylmalonic Acidemia	Tetraparesis, Choreoathetosis, Ataxia, Paraparesis	ORPHA:27
Severe Oculo-Renal-Cerebellar Syndrome	Spasticity, Mandibular prognathia, Wide mouth, Hypoplasia of the zygomatic bone, Choreoathetosis,...	ORPHA:2715
Localized Scleroderma	Abnormal facial skeleton morphology, Abnormality of the dentition, Short dental root, Dental malo...	ORPHA:90289
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Apert Syndrome	Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Bifid uvula, Cleft palate, Malar...	OMIM:101200
Congenital Disorder Of Deglycosylation 1	Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Action tremor, Pain insensitivi...	OMIM:615273
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, High palate, Hypoplasia of the maxilla, Micrognathia, Dental malocclusion, Cryptor...	OMIM:182212
Pelizaeus-Merzbacher Disease	Spasticity, Choreoathetosis, Ataxia, Gait disturbance	ORPHA:702
Nestor-Guillermo Progeria Syndrome	Thin vermilion border, Dental malocclusion, Dental crowding, Micrognathia, Microretrognathia, Man...	OMIM:614008
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, High palate, Wide mouth, Trismus, Shawl scrotum, Dental malocclusion, Cryptorchidi...	OMIM:227330
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Tongue fasciculations, High palate, Degeneration of anter...	ORPHA:1145
Holoprosencephaly	Spinal cord tumor, Solitary median maxillary central incisor, Hypoplasia of penis, Chorea, Spasti...	ORPHA:2162
Amyotrophic Lateral Sclerosis 21	Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later...	OMIM:606070
Williams Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Microdontia, Ataxia, Wide mouth, Long philtrum,...	ORPHA:904
Mcleod Syndrome	Chorea, Impaired vibration sensation at ankles	OMIM:300842
Choreoacanthocytosis	Bradykinesia, Hypertonia, Hyperkinetic movements, Falls, Resting tremor, Chorea, Blepharospasm, P...	ORPHA:2388
Niemann-Pick Disease Type C	Lower limb spasticity, Chorea, Tremor, Cataplexy, Upper motor neuron dysfunction, Frequent falls,...	ORPHA:646
Mitochondrial Complex I Deficiency, Nuclear Type 28	Akinesia, Lower limb spasticity, Truncal ataxia, Abnormal pyramidal sign, Choreoathetosis	OMIM:618249
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Widely spaced teeth, Torticollis, Dental crowding, Mandibular pr...	OMIM:618371
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Widely spaced teeth, Hypospadias, Short philtrum, Downturned corners of mouth, Wide mouth, Tented...	ORPHA:487796
Hajdu-Cheney Syndrome	Hypospadias, Absent frontal sinuses, Premature loss of teeth, High palate, Narrow mouth, Microgna...	OMIM:102500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Supernumerary tooth, Syringomyelia, Narrow palate, Hypospadias, Dental crowdin...	ORPHA:353281
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Inability to walk by childhood/adolescence, Torticollis, Short philtrum, Athetosis, High palate, ...	OMIM:620224
3-Methylglutaconic Aciduria, Type Viib	Hyperkinetic movements, Trismus, Spasticity, Tremor, Micrognathia, Ataxia, Opisthotonus, Myoclonu...	OMIM:616271
Mitochondrial Dna-Associated Leigh Syndrome	Hypertonia, Chorea, Spasticity, Gait ataxia, Ataxia	ORPHA:255210
Pettigrew Syndrome	Calvarial osteosclerosis, Spasticity, Mandibular prognathia, Gait ataxia, Wide mouth, Thick vermi...	OMIM:304340
Oliver Syndrome	Mandibular prognathia, High palate, Short philtrum, Dental malocclusion	ORPHA:2920
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Hypospadias, Dental malocclusion, Delayed eruption of teeth,...	OMIM:300166
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Hyperintensity of MRI T2 signal of the spinal cord, Paralysis, R...	ORPHA:79139
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hyperkinetic movements, Inability to walk, Oculomotor apraxia, Chorea, Athetosis, Action tremor, ...	ORPHA:404454
Proximal 16P11.2 Microdeletion Syndrome	Paroxysmal dyskinesia, Syringomyelia, Speech apraxia, Micrognathia, Cleft palate, Choreoathetosis	ORPHA:261197
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Torticollis, Limb hypertonia, Athetosis, Blepharospasm, Exaggerated startle respon...	OMIM:608643
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Limb hypertonia, Gait ataxia, Protruding tongue, Ataxia, Opisthotonus, Choreoa...	OMIM:619580
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Abnormal spermatoge...	OMIM:208900
3-Methylglutaconic Aciduria Type 7	Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Progressive extrapyramidal ...	ORPHA:445038
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Dental malocclusion	OMIM:259730
Frank-Ter Haar Syndrome	Broad alveolar ridges, Gingival overgrowth, High palate, Micrognathia, Wide mouth, Dental maloccl...	OMIM:249420
Nmda Receptor Encephalitis	Testicular teratoma, Chorea, Ovarian teratoma, Involuntary movements, Rigidity, Opisthotonus, Myo...	ORPHA:217253
Catastrophic Antiphospholipid Syndrome	Chorea	ORPHA:464343
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:234200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Supernumerary tooth, Syringomyelia, Hypospadias, Dental crowding, High palate, Tal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Supernumerary tooth, Syringomyelia, Hypospadias, Dental crowding, High palate, Tal...	ORPHA:353277
Birk-Landau-Perez Syndrome	Limb ataxia, Difficulty walking, Limb hypertonia, Oculomotor apraxia, Choreoathetosis	OMIM:617595
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Micrognathia	OMIM:253310
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Syringomyelia, Delayed eruption of teeth, Dental crowding, Ma...	OMIM:614188
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Choreoathetosis, Ataxia, Difficulty walking, Broad-based gait	OMIM:610978
Traboulsi Syndrome	Retrognathia, High palate, Bifid uvula, Malar flattening, Dental malocclusion	OMIM:601552
Fraser Syndrome	Orofacial cleft, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Dental crowding, H...	ORPHA:2052
Glutaric Acidemia I	Rigidity, Choreoathetosis, Opisthotonus, Spastic diplegia	OMIM:231670
De Sanctis-Cacchione Syndrome	Babinski sign, Hypertonia, Scissor gait, Spasticity, Bilateral cryptorchidism, Ataxia, Gonadal hy...	OMIM:278800
Lesch-Nyhan Syndrome	Abnormality of extrapyramidal motor function, Spasticity, Opisthotonus, Choreoathetosis, Testicul...	OMIM:300322
Faciocardiomelic Syndrome	Micrognathia, Wide mouth, Long philtrum, Dental malocclusion, Hyperplasia of the maxilla	OMIM:612731
Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Abnormality of extrapyramidal motor function, Spasticity, Gait disturbance, Intenti...	ORPHA:157850
Coffin-Lowry Syndrome	Narrow palate, Thick lower lip vermilion, Widely spaced teeth, Mandibular prognathia, High palate...	OMIM:303600
Carpenter Syndrome 2	Narrow palate, Retrognathia, High, narrow palate, High palate, Bilateral cryptorchidism, Carious ...	OMIM:614976
Xeroderma Pigmentosum, Complementation Group A	Spasticity, Distal sensory impairment, Ataxia, Choreoathetosis	OMIM:278700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Micrognathia, Long...	ORPHA:73223
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion	OMIM:608940
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Dental crowding, Bicornuate uterus, Cleft upper lip, Cleft pal...	OMIM:219000
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, Decreased testicular s...	OMIM:610644
Monosomy 22Q13.3	Impaired pain sensation, Dental crowding, Dental malocclusion, Malar flattening	ORPHA:48652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Thin vermilion border, Spasticity, Tremor, High palate, Micrognathia, Cleft palate, Open mouth, L...	OMIM:614080
Menkes Disease	Abnormal palate morphology, Hypertonia, Chorea, Spasticity, Micrognathia	ORPHA:565
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermia, Urogenital sin...	ORPHA:1772
Woodhouse-Sakati Syndrome	Abnormality of extrapyramidal motor function, Hypoplasia of the fallopian tube, Hypergonadotropic...	OMIM:241080
Focal Dermal Hypoplasia	Spina bifida occulta, Delayed eruption of teeth, Labial hypoplasia, Oligodontia, Clitoral hypopla...	OMIM:305600
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Dural ectasia, High palate, Uterine prolapse, Cleft palate, Bifid uvula, Malar flat...	ORPHA:284984
Williams-Beuren Syndrome	Thick lower lip vermilion, Gait imbalance, Hypodontia, Incoordination, Vocal cord paralysis, Micr...	OMIM:194050
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Neuroleptic Malignant Syndrome	Chorea, Extrapyramidal muscular rigidity, Tremor	ORPHA:94093
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Ataxia, Choreoathetosis	OMIM:612716
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Primary Sjögren Syndrome	Vaginal dryness, Chorea, Parotitis, Abnormal spinal cord morphology, Somatic sensory dysfunction	ORPHA:289390
Xeroderma Pigmentosum, Complementation Group D	Spasticity, Choreoathetosis, Ataxia	OMIM:278730
Noonan Syndrome 1	High, narrow palate, Hypospadias, High palate, Micrognathia, Cleft palate, Hypogonadism, Dental m...	OMIM:163950
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Hypospadias, Gingival overgrowth, Macroglossia, Mandibular prognathia, Exaggerated...	OMIM:312870
Loeys-Dietz Syndrome 3	Retrognathia, Dural ectasia, High palate, Uterine prolapse, Bifid uvula, Cleft palate, Malar flat...	OMIM:613795
Systemic Lupus Erythematosus	Chorea, Cheilitis, Abnormal pigmentation of the oral mucosa, Oral ulcer	ORPHA:536
Early Infantile Epileptic Encephalopathy	Spasticity, Tremor, Episodic ataxia, Precocious puberty, Cleft palate, Myoclonus, Choreoathetosis...	ORPHA:1934
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Cleft palate, Cleft lip, Sex reversal	OMIM:611812
Brucellosis	Chorea, Orchitis, Epididymitis	ORPHA:1304
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
African Trypanosomiasis	Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Myelitis, Fas...	ORPHA:3385
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Cleft palate, Micropenis, Hypoplasia of th...	OMIM:309801
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510

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 Dmrt3

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 Dmrt3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dmrt factors determine the positional information of cerebral cortical progenitors via differential suppression of homeobox genes.	Development (Cambridge, England) (August 2019)	Dmrt3^{tm1(KOMP)Vlcg}	31371378
The mammalian DM domain transcription factor Dmrta2 is required for early embryonic development of the cerebral cortex.	PloS one (October 2012)	Dmrt3^{tm1(KOMP)Vlcg}	PMC3462758

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dmrt3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dmrt3^{tm278616(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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