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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 (431 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		Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	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, Frequent falls, Gait disturbance	OMIM:118700
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Trismus, Chorea, Choreoathetosis, Hyperkinetic move...	ORPHA:98810
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction	ORPHA:401901
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox...	ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Huntington Disease-Like 2	Chorea, Involuntary movements, Gait disturbance, Parkinsonism	ORPHA:98934
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Unsteady gait, Dental malocclusion, Gait ataxia, High palate	OMIM:618292
Episodic Kinesigenic Dyskinesia 2	Chorea, Involuntary movements, Paroxysmal dyskinesia	OMIM:611031
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity	OMIM:258501
Developmental And Epileptic Encephalopathy 37	Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M...	OMIM:616981
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,...	ORPHA:98756
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, Hyperplasia of ...	OMIM:618587
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria	OMIM:603218
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance	OMIM:607674
Choreoathetosis, Familial Inverted	Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance	OMIM:118750
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Short mandibular rami	OMIM:141300
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait...	ORPHA:216873
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia	OMIM:618501
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Chorea, Involuntary movements	ORPHA:98809
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Ataxia, Dental malocclusion	OMIM:619692
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper...	ORPHA:247604
Sydenham Chorea	Movement abnormality of the tongue, Chorea, Unsteady gait, Hemiballismus	ORPHA:306731
Striatal Degeneration, Autosomal Dominant 2	Chorea, Parkinsonism	OMIM:616922
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Chorea, Poor coordination, Falls, Paroxysmal dyskinesia	OMIM:619150
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia	ORPHA:31709
Gordon Holmes Syndrome	Chorea, Ataxia, Hypogonadotropic hypogonadism	OMIM:212840
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Childhood-Onset Benign Chorea With Striatal Involvement	Chorea, Parkinsonism with favorable response to dopaminergic medication	ORPHA:494541
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p...	DECIPHER:29
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br...	OMIM:607136
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea	OMIM:618760
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia	OMIM:618093
Huntington Disease	Rigidity, Chorea, Bradykinesia, Gait ataxia	OMIM:143100
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia	ORPHA:324588
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Developmental And Epileptic Encephalopathy 17	Inability to walk, Athetosis, Chorea	OMIM:615473
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Chorea, Remitting, With Nystagmus And Cataract	Chorea	OMIM:601372
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Chorea, Benign Familial	Chorea	OMIM:215450
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements	OMIM:620245
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus	OMIM:616230
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa...	OMIM:606353
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Acetyl-Coa Acetyltransferase-2 Deficiency	Chorea	OMIM:614055
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis	OMIM:615483
Ataxia-Telangiectasia-Like Disorder	Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl...	ORPHA:251347
X-Linked Dystonia-Parkinsonism	Resting tremor, Protruding tongue, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, D...	ORPHA:53351
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Progressive extrapyramid...	ORPHA:382
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy...	OMIM:604391
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Cataract 11, Multiple Types	Chorea, Hypertonia	OMIM:610623
Developmental And Epileptic Encephalopathy 78	Inability to walk, Chorea, Cerebral palsy, Spasticity	OMIM:618557
Birk-Aharoni Syndrome	Micrognathia, Inability to walk, Chorea, Cryptorchidism, Spastic tetraplegia, Micropenis	OMIM:620071
Pontocerebellar Hypoplasia, Type 2C	Chorea	OMIM:612390
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o...	OMIM:617672
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia	OMIM:613811
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct...	OMIM:604802
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si...	ORPHA:98759
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Narrow mouth	OMIM:619317
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia	OMIM:614820
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk...	ORPHA:13
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Choreoathetosis, Athetosis, Chorea	OMIM:309541
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis	OMIM:104290
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma...	ORPHA:500180
Basal Ganglia Calcification, Idiopathic, 6	Choreoathetosis, Involuntary movements, Parkinsonism	OMIM:616413
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Progressive extrapyram...	ORPHA:401768
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen...	OMIM:208920
Huntington Disease-Like 3	Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive ...	ORPHA:157946
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity	OMIM:614254
Spinocerebellar Ataxia 47	Ataxia, Chorea, Dysmetria, High palate, Spasticity	OMIM:617931
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Inability to walk, Chorea, Gait ataxia, Spasticity	OMIM:618917
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor	OMIM:619738
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity	OMIM:617493
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep...	OMIM:164400
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox...	ORPHA:53583
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity	OMIM:616139
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br...	ORPHA:399
Episodic Kinesigenic Dyskinesia 1	Paroxysmal choreoathetosis	OMIM:128200
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Paroxysmal Nonkinesigenic Dyskinesia 1	Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Short philtrum, Spasticity	OMIM:618451
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a...	ORPHA:95
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Ataxia, Involuntary movements, Choreoathetosis, Amelogenesis imperfect...	OMIM:615905
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Ataxia, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the dentiti...	OMIM:604168
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Loss of ambulation, Spa...	OMIM:618088
Schimke X-Linked Mental Retardation Syndrome	Choreoathetosis, Spasticity	OMIM:312840
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Chorea, Paroxysmal dyskinesia	ORPHA:79137
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonism, Head titubati...	ORPHA:300605
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia	OMIM:601042
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti...	OMIM:619725
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus	OMIM:617235
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Action tremor	OMIM:606438
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Dental malocclusion, Short philtr...	ORPHA:2471
Baker-Gordon Syndrome	Thin upper lip vermilion, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hype...	OMIM:618218
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls	OMIM:301020
Spastic Paraplegia 86, Autosomal Recessive	Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis	OMIM:619735
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Folinic Acid-Responsive Seizures	Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Difficulty walking	ORPHA:79097
Fanconi Anemia, Complementation Group S	Macrodontia, Ataxia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Thi...	OMIM:617883
Neurodevelopmental Disorder With Dystonia And Seizures	Athetosis, Chorea, Spastic tetraplegia	OMIM:619922
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe...	ORPHA:485350
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity	OMIM:271930
Aceruloplasminemia	Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto...	OMIM:604290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Abnormal reproductive system morphology, Inability to walk, Chorea, Spasticity	ORPHA:70472
Early-Onset X-Linked Optic Atrophy	Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor	ORPHA:98890
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Micrognathia, Inability to walk, Chorea, Thick lower lip vermilion, Hem...	OMIM:618004
Boucher-Neuhauser Syndrome	Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Abnormal upper motor neuron morphology, Spast...	OMIM:215470
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Intellectual Developmental Disorder, Autosomal Recessive 58	Choreoathetosis, Spastic diplegia	OMIM:617270
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Incoordination, Micrognathia, Diastema, Dental malocclusion, Poor fine motor coordination, Malar ...	ORPHA:436245
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Tented upper lip vermilion, Ataxia, Hypospadias, Rigid...	OMIM:300260
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormal...	OMIM:615673
Systemic Lupus Erythematosus 17	Chorea, Oral ulcer, Myelitis	OMIM:301080
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypertonia, Choreoathetosis, Myoclonus	OMIM:261630
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Chorea, Oral ulcer, Genital ulcers	OMIM:616744
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis	OMIM:617065
Leukodystrophy, Hypomyelinating, 16	Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S...	OMIM:617964
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Polyglucosan Body Neuropathy, Adult Form	Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Gait disturbance, Abnor...	OMIM:263570
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal choreoathetosis	OMIM:602066
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Exaggerated startle response, Inability to walk, Chorea, Spastic tetrapleg...	OMIM:617864
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Micrognathia, Paucity of anterior horn motor neurons, Ina...	OMIM:611890
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Pallor of dorsal columns of the spinal cord, Amyotrophic ...	OMIM:602433
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr...	ORPHA:61
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusi...	ORPHA:1327
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity	OMIM:614249
Mepan Syndrome	Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity	ORPHA:508093
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lower limb spasticity, Broad-based gait, Abnormality of upper lip vermillion, Dental crowding, Ex...	ORPHA:251028
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, S...	ORPHA:3079
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls	OMIM:619054
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612716
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
X-Linked Creatine Transporter Deficiency	Ataxia, Chorea, Athetosis, Hypertonia, Malar flattening, Open mouth	ORPHA:52503
Oculorenocerebellar Syndrome	Choreoathetosis, Spastic diplegia	OMIM:257970
Mitochondrial Dna Depletion Syndrome 17	Chorea, Hemiballismus, Spastic tetraparesis	OMIM:618567
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Hemiplegia/hemiparesis, Chorea	ORPHA:289916
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Chorea, Spasticity	OMIM:613970
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Spastic paraplegia, Sp...	OMIM:300055
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab...	OMIM:613954
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Hypospadias, Selective tooth agenesis, Hypergonadotropic hypogonadism, Microgna...	ORPHA:2959
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Tented upper lip vermilion, Chorea, High palate, Spasticity	OMIM:620149
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Cryptorchidism, Dental malocclusi...	OMIM:619293
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Chorea, Difficulty walking, Truncal ataxia	ORPHA:369840
Cri-Du-Chat Syndrome	Microretrognathia, Hypospadias, Cryptorchidism, Thick lower lip vermilion, Orofacial cleft, Downt...	OMIM:123450
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Ritscher-Schinzel Syndrome 4	Ataxia, Cryptorchidism, Chorea, Narrow palate, Wide mouth, Athetosis, High palate, Short philtrum...	OMIM:619435
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Micrognathia, Abnormality of the dentition, Cryptorchidism, T...	ORPHA:85321
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance	OMIM:250100
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Spasticity	OMIM:614961
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,...	OMIM:618877
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus	OMIM:618497
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Ataxia, Involuntary movements, Protruding tongue, Inability to walk, Chore...	OMIM:617804
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Gingival overgrowth, Choreoathetosis, High palate, Retrognathia, Smooth philtrum	OMIM:619422
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus	OMIM:609056
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign...	OMIM:601162
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Spasticity	OMIM:308950
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreoathetosis, Apraxia, Sp...	OMIM:619653
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Rigidity, Inability to walk, Choreoathetosis, Hypertonia, High palate	OMIM:620023
Neurodegeneration With Brain Iron Accumulation 2B	Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas...	OMIM:610217
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Ataxia, Hypospadias, Cryptorchidism, Dental malocclusion, Downturned co...	OMIM:616737
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, Micrognathia, High, narrow palate, Supernume...	OMIM:234100
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis	OMIM:612126
Beaulieu-Boycott-Innes Syndrome	Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Endometriosis, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion...	ORPHA:363444
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de...	OMIM:616331
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Rheumatic Fever	Sinusitis, Chorea, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P...	ORPHA:206594
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:261640
Nasu-Hakola Disease	Oculomotor apraxia, Chorea, Spasticity	ORPHA:2770
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Zimmermann-Laband Syndrome	Abnormal external genitalia, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft pala...	ORPHA:3473
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi...	ORPHA:763
Phelan-Mcdermid Syndrome	Broad-based gait, Micrognathia, Impaired pain sensation, Unsteady gait, Dental malocclusion, High...	OMIM:606232
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Oculomotor apraxia, Spasticity	OMIM:612438
Developmental And Epileptic Encephalopathy 84	Chorea, Babinski sign, Thick lower lip vermilion, Opisthotonus, Spasticity, Smooth philtrum	OMIM:618792
Pontocerebellar Hypoplasia, Type 2B	Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Spasticity, Limb hypertonia	OMIM:612389
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hyperkinetic...	OMIM:615356
Muenke Syndrome	Malar flattening, High palate, Dental malocclusion	OMIM:602849
Nabais Sa-De Vries Syndrome, Type 2	Micrognathia, Chorea, Bilateral cleft lip and palate, Hemiparesis, Thin vermilion border, High pa...	OMIM:618829
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad-based gait, Hypospadias, Cleft upper lip, ...	OMIM:601808
Myopathy, Myofibrillar, 8	Dental malocclusion, Frequent falls, High palate, Micrognathia	OMIM:617258
Leukodystrophy, Hypomyelinating, 4	Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity	OMIM:612233
Developmental And Epileptic Encephalopathy 74	Choreoathetosis	OMIM:618396
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Intermediate Osteopetrosis	Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull...	ORPHA:210110
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Hypospadias, Chorea, Clumsiness, Choreoathetosis, ...	ORPHA:209905
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia, Cryptorchidism, Dental malo...	OMIM:210600
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Ataxia, Choreoathetosis, Hypertonia, Hemiplegia	OMIM:272300
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spas...	OMIM:221770
Pandas	Chorea, Clumsiness	ORPHA:66624
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, High ...	ORPHA:765
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Dental malocc...	ORPHA:329178
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia	OMIM:233910
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Leukodystrophy, Hypomyelinating, 2	Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti...	OMIM:608804
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Erratic myoclonus, Mi...	OMIM:308350
3-Methylglutaconic Aciduria, Type Ix	Clonus, Choreoathetosis, Hypertonia, High palate, Spasticity	OMIM:617698
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec...	ORPHA:309271
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Spasti...	ORPHA:561854
Cimdag Syndrome	Hypogonadism, Chorea, Ataxia, Spasticity	OMIM:619273
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Choreoathetosis, Frequent falls, Ataxia	OMIM:618416
Gm2 Gangliosidosis, Ab Variant	Progressive spastic quadriplegia, Chorea, Abnormal pyramidal sign, Exaggerated startle response	ORPHA:309246
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
X-Linked Intellectual Disability, Schimke Type	Choreoathetosis, Spasticity, High palate	ORPHA:85285
Mitochondrial Complex I Deficiency, Nuclear Type 16	Choreoathetosis, Spasticity, Spastic tetraplegia	OMIM:618238
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Hypospadias, Micrognathia, Diastema, Cryptorchi...	ORPHA:96121
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Ataxia, Micrognathia, Cryptorchidism, Deep philtrum, Spastic paraplegia, Opi...	OMIM:614969
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus	OMIM:617600
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Snijders Blok-Fisher Syndrome	Choreoathetosis, Cryptorchidism, Spasticity, Opisthotonus	OMIM:618604
Harrod Syndrome	Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narrow mouth	ORPHA:2115
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Episodic Ataxia Type 1	Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia	ORPHA:37612
Myopathy, Centronuclear, X-Linked	Cryptorchidism, High palate, Dental malocclusion	OMIM:310400
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Ovaria...	OMIM:269880
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Chorea, Spasticity	OMIM:616339
Alexander Disease	Ataxia, Clonus, Tremor, Precocious puberty, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait di...	ORPHA:58
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Long philtrum, Episodic ataxia	OMIM:312170
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athetosis	ORPHA:25
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Micrognathia, Cryptorchidism, Dental malocclusion, Absence of labia majora, Cleft pa...	OMIM:265000
Larsen-Like Syndrome	Malar flattening, Dental malocclusion, Cleft palate	OMIM:608545
Cockayne Syndrome A	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Tremor, Carious teeth, Cryptorc...	OMIM:216400
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypopl...	OMIM:615546
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Allan-Herndon-Dudley Syndrome	Ataxia, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoatheto...	ORPHA:59
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Fasciculations, U...	ORPHA:52430
Martin-Probst Syndrome	Bifid scrotum, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide...	OMIM:300519
Pontocerebellar Hypoplasia, Type 2A	Chorea, Extrapyramidal dyskinesia, Opisthotonus	OMIM:277470
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus	OMIM:618321
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Chorea, Gingival overgrowth, Gait at...	OMIM:619777
Spondyloenchondrodysplasia	Delayed eruption of teeth, Chorea, Dental malocclusion, Spasticity	ORPHA:1855
Alternating Hemiplegia Of Childhood	Ataxia, Exaggerated cupid's bow, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramida...	ORPHA:2131
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Myoclonus, Tetraparesis, Opisthotonus	OMIM:616672
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Hsd10 Mitochondrial Disease	Choreoathetosis, Spasticity, Spastic tetraplegia	OMIM:300438
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Cryptorchidism, Dental malocclusion, Wide mouth, High pal...	OMIM:611174
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max...	OMIM:601390
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Bleph...	ORPHA:800
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Chorea, Athetosis, Apraxia, Spasticity	OMIM:613454
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Oculomotor apraxia, Ataxia	OMIM:245348
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, In...	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, In...	ORPHA:352665
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Bifid scrotum, Penosc...	OMIM:211380
Cockayne Syndrome	Somatic sensory dysfunction, Ataxia, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Tremor, Head titubation, Inability to walk, Spastic paraplegia, Abnorma...	OMIM:312080
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Chorea, Tip-toe gait	ORPHA:268
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cleft palate, ...	OMIM:616894
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate...	OMIM:115150
Noonan Syndrome 4	Wide mouth, Cryptorchidism, Thick vermilion border, Dental malocclusion	OMIM:610733
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus,...	ORPHA:522077
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Precocious puberty, Dental malocclusion, Abnormal facial skeleto...	ORPHA:562
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion	OMIM:608940
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Spasticity, Choreoathetosis	OMIM:617664
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent...	OMIM:101800
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Cockayne Syndrome B	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Tremor, Carious teeth, Cryptorc...	OMIM:133540
Cerebellar-Facial-Dental Syndrome	Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long p...	ORPHA:444072
Leigh Syndrome	Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Athetosis, Hyperkinetic...	ORPHA:506
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism...	OMIM:603457
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,...	OMIM:618975
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Micrognathia	OMIM:608257
Osteogenesis Imperfecta	Delayed eruption of teeth, Somatic sensory dysfunction, Abnormality of dental color, Ataxia, Abno...	ORPHA:666
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Limb hypertonia	OMIM:618247
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Au-Kline Syndrome	Cryptorchidism, Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, Oli...	OMIM:616580
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho...	OMIM:617988
Sclerosteosis 1	Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Malar...	OMIM:269500
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Malar prominence, Spastic diplegia, Choreoathetosis, Wide mouth, Hypoplasi...	ORPHA:2715
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Paraparesis, Ataxia, Tetraparesis	ORPHA:27
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Cryptorchidism, Agenesi...	OMIM:610829
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Cryptorchidism	OMIM:616202
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Paralysis	ORPHA:83601
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala...	OMIM:101200
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ...	ORPHA:90289
Pelizaeus-Merzbacher Disease	Choreoathetosis, Spasticity, Ataxia, Gait disturbance	ORPHA:702
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ...	OMIM:615273
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow palate, High...	OMIM:182212
Holoprosencephaly	Hypoplasia of penis, Median cleft lip, Bilateral cleft lip, Cryptorchidism, Chorea, Deep philtrum...	ORPHA:2162
Mcleod Syndrome	Chorea, Impaired vibration sensation at ankles	OMIM:300842
Faciodigitogenital Syndrome, Autosomal Recessive	Trismus, Deep philtrum, Cryptorchidism, Dental malocclusion, Narrow palate, Wide mouth, High pala...	OMIM:227330
Niemann-Pick Disease Type C	Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Abnormal pyramidal sign, Clumsines...	ORPHA:646
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man...	OMIM:614008
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia	OMIM:618249
Williams Syndrome	Hypoplasia of penis, Micrognathia, Tremor, Dysmetria, Microdontia, Spina bifida occulta, Abnormal...	ORPHA:904
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Hajdu-Cheney Syndrome	Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Dental malocclusion, High pala...	OMIM:102500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Hypospadias, Carious teeth, Cryptorchidism, Supernumerary tooth, Ta...	ORPHA:353281
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Dental malocclusion, Downturne...	ORPHA:487796
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Torticollis, Dental crowding, Abnormality of the...	OMIM:618371
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Micrognathia, Tremor, Trismus, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myo...	OMIM:616271
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Babinski sign, Limb tremor, Choreoathetosis, Athetosis...	OMIM:608643
Pettigrew Syndrome	Mandibular prognathia, Gait ataxia, Choreoathetosis, Wide mouth, Thick vermilion border, Spastici...	OMIM:304340
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Torticollis, Micrognathia, Cryptorchidism, Inability to walk by childhood/ado...	OMIM:620224
Oliver Syndrome	Mandibular prognathia, High palate, Short philtrum, Dental malocclusion	ORPHA:2920
Ataxia-Telangiectasia	Sinusitis, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred speech, Choreoathetosi...	OMIM:208900
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Chorea, Gait ataxia, Hypertonia, Spasticity	ORPHA:255210
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Micrognathia, Cleft palate, Choreoathetosis, Syringomyelia, Paroxysmal dyskinesia	ORPHA:261197
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Protruding tongue, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, Limb hy...	OMIM:619580
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Oculomotor apraxia, Acti...	ORPHA:404454
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Septate vagina, Persistence of primary teeth, Cryptorchid...	OMIM:300166
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex...	ORPHA:445038
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Dental malocclusion	OMIM:259730
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig...	OMIM:249420
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Hypospadias, Cleft upper lip, Cryptorchidism...	ORPHA:2052
Birk-Landau-Perez Syndrome	Limb ataxia, Choreoathetosis, Difficulty walking, Oculomotor apraxia, Limb hypertonia	OMIM:617595
Nmda Receptor Encephalitis	Ovarian teratoma, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclon...	ORPHA:217253
Catastrophic Antiphospholipid Syndrome	Chorea	ORPHA:464343
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, Supernume...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, Supernume...	ORPHA:353277
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula	OMIM:601552
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Choreoathetosis, Broad-based gait, Ataxia, Difficulty walking	OMIM:610978
Glutaric Acidemia I	Choreoathetosis, Rigidity, Spastic diplegia, Opisthotonus	OMIM:231670
Fraser Syndrome 1	Dental crowding, Hypospadias, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate,...	OMIM:219000
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla	OMIM:612731
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral cryptorchidism, Babinski sign, Scissor gait, Gonadal hypoplasia, Choreoathetosi...	OMIM:278800
Coffin-Lowry Syndrome	Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate...	OMIM:303600
Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Rigidity, Slurred speech, Choreoathetosis, Tip-toe gait, Abnormality of extrapyrami...	ORPHA:157850
Xeroderma Pigmentosum, Complementation Group A	Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment	OMIM:278700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Carpenter Syndrome 2	Carious teeth, High, narrow palate, Bilateral cryptorchidism, Cryptorchidism, Dental malocclusion...	OMIM:614976
Lesch-Nyhan Syndrome	Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Spasticity, Testicul...	OMIM:300322
Menkes Disease	Micrognathia, Chorea, Hypertonia, Spasticity, Abnormal palate morphology	ORPHA:565
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous...	OMIM:610644
Williams-Beuren Syndrome	Incoordination, Poor coordination, Vocal cord paralysis, Thick lower lip vermilion, Dental malocc...	OMIM:194050
Monosomy 22Q13.3	Malar flattening, Dental malocclusion, Dental crowding, Impaired pain sensation	ORPHA:48652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Tremor, Cleft palate, Choreoathetosis, Hydrocele testis, Thin vermilion border, Hig...	OMIM:614080
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Ol...	OMIM:305600
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, H...	ORPHA:1772
Woodhouse-Sakati Syndrome	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Cleft palate, Dural ectasia, High palate, Uterine prolapse, Malar flattening...	ORPHA:284984
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Neuroleptic Malignant Syndrome	Tremor, Chorea, Extrapyramidal muscular rigidity	ORPHA:94093
Noonan Syndrome 1	Hypospadias, Micrognathia, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate...	OMIM:163950
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormal spinal cord morphology, Chorea, Vaginal dryness, Parotitis	ORPHA:289390
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Spasticity, Ataxia	OMIM:278730
Systemic Lupus Erythematosus	Abnormal pigmentation of the oral mucosa, Cheilitis, Chorea, Oral ulcer	ORPHA:536
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Choreoathetosis, Hypoplasia of the uterus, Abnorm...	ORPHA:3464
Loeys-Dietz Syndrome 3	Cystocele, Dental malocclusion, Cleft palate, Dural ectasia, High palate, Uterine prolapse, Malar...	OMIM:613795
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Hypospadias, Cryptorchidism, Submucous c...	OMIM:312870
Early Infantile Epileptic Encephalopathy	Tremor, Precocious puberty, Cleft palate, Micropenis, Choreoathetosis, Myoclonus, Episodic ataxia...	ORPHA:1934
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ovotestis, Cleft lip, Cleft palate, Sex reversal	OMIM:611812
Brucellosis	Orchitis, Chorea, Epididymitis	ORPHA:1304
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hyp...	OMIM:309801
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	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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