Gene Summary

Name:
homeodomain interacting protein kinase 2
Synonyms:
Stank,  1110014O20Rik,  B230339E18Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal maxilla morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 2.38×10-05
abnormal lens morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 2.32×10-05
preweaning lethality, incomplete penetrance Hipk2tm2b(EUCOMM)Hmgu HOM   Early adult 0.00
increased heart weight Hipk2tm2b(EUCOMM)Hmgu HET Early adult 4.50×10-05
abnormal tooth morphology Hipk2tm2b(EUCOMM)Hmgu HOM   Early adult 1.65×10-06
abnormal snout morphology Hipk2tm2b(EUCOMM)Hmgu HOM Early adult 5.31×10-05
increased kidney weight Hipk2tm2b(EUCOMM)Hmgu HET Early adult 1.86×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Hipk2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hipk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dystonia 30
Hypothalamic hamartoma, Dystonia, Aggressive behavior, Loss of ability to walk, Writer's cramp, T... OMIM:619291
Ethanolaminosis
Cardiomegaly OMIM:227150
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Dystonia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... ORPHA:320411
Leukoencephalopathy, Brain Calcifications, And Cysts
Tremor, Dystonia, Gait disturbance, Ataxia, Cerebral calcification, Leukoencephalopathy, Mental d... OMIM:614561
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis, Focal d... ORPHA:329466
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Dystonia, Ataxia, Abnormality of the basal ganglia, Irri... ORPHA:263410
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Dementia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia... OMIM:615889
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Gait disturbance, Caudate atrophy, Cerebral cortical atrophy, Abnorma... ORPHA:98934
Rare Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the ... ORPHA:101685
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Substantia nigra gliosis, Rig... OMIM:600116
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebral white matter atrophy, Dementia, ... ORPHA:98756
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Irritability, Cerebral calcif... OMIM:261630
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Anxiety, Cognitive impairment, Memory impairment, Rigidity ORPHA:401901
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Self-in... OMIM:614254
Dystonia 4, Torsion, Autosomal Dominant
Torsion dystonia, Gait ataxia, Torticollis, Generalized dystonia, Limb dystonia OMIM:128101
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Inertia, Violent behavior, Chorea, Gait disturbance, Emotional lability, Irritability, Fo... ORPHA:216873
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Progressive neurologic deterioration, Dystonia, Hypointensity of cerebral white matter on MRI, At... OMIM:619196
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Spastic ataxia, Gait disturbance, Memory impairment OMIM:108600
Dystonia 25
Lingual dystonia, Laryngeal dystonia, Torticollis, Limb dystonia OMIM:615073
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety, Rigidity OMIM:606438
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypertonia, Loss of ability to walk, Craniofacial dystonia, Unsteady gait OMIM:617054
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenos... OMIM:615382
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... ORPHA:98807
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Cerebral atrophy, Ataxia, Irritability, Cognitive impairment, Choreoathetosis OMIM:612126
Dystonia 28, Childhood-Onset
Dystonia, Gait disturbance, Toe walking, Spasticity, Craniofacial dystonia, Laryngeal dystonia, T... OMIM:617284
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Limb dystonia, Cognitive impairm... ORPHA:101109
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Head tremor, Action tremor, Progressive cerebellar ... OMIM:604326
Dystonia 6, Torsion
Torsion dystonia, Writer's cramp, Laryngeal dystonia, Lingual dystonia, Torticollis, Limb dystoni... OMIM:602629
Dystonia 11, Myoclonic
Tremor, Generalized hypotonia, Agoraphobia, Writer's cramp, Torticollis, Anxiety, Hypotonia OMIM:159900
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Brady... ORPHA:248111
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Aggressive behavior, Chorea, Ataxia, Lower limb spastici... ORPHA:98811
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia, Torticollis OMIM:611694
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Self-injur... OMIM:617820
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Leukodystrophy, Hypomyelinating, 16
Dystonia, Gait ataxia, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypertonia, Dysm... OMIM:617964
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Generalized hypotonia, Resting tremor, Bradykinesia, Craniofacial dystonia, Emotiona... ORPHA:71517
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic paraparesis, Hypoplasia of the corpus callosum, Gait disturbance, Toe... OMIM:615643
Developmental And Epileptic Encephalopathy 38
Dystonia, Hypertonia, Generalized hypotonia, Ataxia OMIM:617020
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, Hypoplasia of the corpus callosum, Self-injurious behavior, ... OMIM:618760
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Abnormality of the basal ganglia, Decreased thalamic volume, Spastic... OMIM:618646
Hyperphenylalaninemia, Bh4-Deficient, A
Progressive neurologic deterioration, Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesi... OMIM:261640
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Diffuse white matter abnormalities, Dystonia, Generalized hypotonia, Secondary microcephaly, Micr... OMIM:616763
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Microcephaly, Muscular hypotonia of the trunk, Spastic tetraplegia, Secondary microceph... OMIM:251280
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Emotional lability, Chorea, Resting tremor, Iron accumulation ... ORPHA:157846
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Bradykinesia, Cognitive impairment, Rigidity, Shuffling gait, Spasticity OMIM:615528
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Developmental And Epileptic Encephalopathy 7
Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Hypotonia OMIM:613720
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Aggressive behavior, Dementia, Spastic paraparesis, Cerebral atrophy, Bradykine... ORPHA:329284
Parkinson Disease 14, Autosomal Recessive
Dystonia, Tremor, Aggressive behavior, Rigidity, Frontotemporal dementia, Bradykinesia, Frontotem... OMIM:612953
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Aggressive behavior, Dementia, Rigidity, Chorea, Li... OMIM:607136
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Resting tremor, Br... OMIM:128230
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Dysplastic corpus callosum, Microceph... OMIM:618276
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, Secondary microcephaly, Spasti... OMIM:617829
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Ataxia, Hyperactivity, Mental deterioration, Spasticity OMIM:615924
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Abnormal cerebral white matter morphology, Ataxia, Muscular hypoto... OMIM:607317
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Emotional lability, Cerebr... OMIM:609195
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Memory impairment, Mental deterioration ORPHA:240085
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Memory impairment, Generalized hypotonia, Inertia,... ORPHA:98755
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Leukoencephalopathy, Dysmetria,... OMIM:611390
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Resting tremor, Bradykinesia, Anxiety, Rigidity OMIM:605909
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Progressive cerebellar ataxia, Cerebral cortical atrophy, ... ORPHA:314603
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Infantile axial hypotonia, Progressive inabilit... ORPHA:521406
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Rigidity, Chorea, Gait disturbance, Blepharosp... ORPHA:98759
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Pachygyria, Simplified gyral pattern, Microcephaly, Spasticity OMIM:618397
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Abnormal caudate nucleus morphology, Gait disturbance, Bradyki... ORPHA:314632
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Aggressive behavior, Ataxia, Muscular hypotonia of the trunk, Hyperactivity, Mi... OMIM:612716
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Muscular hypotonia of the tru... OMIM:617013
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Ataxia, Torticollis OMIM:618425
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum,... OMIM:616756
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Focal dystoni... OMIM:605361
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia, Bradyk... OMIM:606159
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dystonia 12
Dystonia, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, Anxiety OMIM:128235
Alternating Hemiplegia Of Childhood 2
Mental deterioration, Dystonia, Choreoathetosis, Ataxia OMIM:614820
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Irritability, Anxiety, Dysmetria, Mental deteriora... OMIM:618093
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Generalized hypotonia, Chorea, Microcephaly, Spasticity OMIM:613970
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Rigidity, Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Basal ganglia calcificat... OMIM:618824
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Rigidity OMIM:168100
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Abnormal periventricular white matter morphology, Abnormal basal ganglia MRI signal int... ORPHA:306741
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Developmental And Epileptic Encephalopathy 27
Dystonia, Generalized hypotonia, Hypotonia, Chorea, Microcephaly, Spasticity OMIM:616139
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Aggressive behavior, Dementia, Spastic paraparesis, Cerebral atrophy, Bradykine... OMIM:300894
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Aggressive behavior, Chorea, Ataxia, Muscular hypotonia of the trunk, Falls, Microcephaly OMIM:619150
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Lethargy, Generalized hypotonia, Ataxia, Bradykinesia, Oculogyric c... ORPHA:101150
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Cerebral atrophy, Secondary microcephaly, Choreoathetosis, Hypotonia OMIM:618497
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Spasticity OMIM:617282
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Rigidity, Chorea, Gait disturbance, Bradyki... OMIM:213600
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Chorea, Hypoplasia of the corpus c... ORPHA:500180
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Huntington Disease
Inability to walk, Dystonia, Mental deterioration, Aggressive behavior, Rigidity, Difficulty walk... ORPHA:399
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis OMIM:118800
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Writer's cramp, Paroxysmal dystonia ORPHA:163727
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Ataxia, Bradykinesia, Dysmetria, Memory impairment, Mental deterioration OMIM:618317
Alternating Hemiplegia Of Childhood 1
Mental deterioration, Dystonia, Choreoathetosis OMIM:104290
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Agoraphobia,... ORPHA:255
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the brainstem, Dystonia, Hypotonia, Hypertonia, Spastic tetraplegia, Simplified gyr... OMIM:619301
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Muscular hypotonia of the trunk, Limb dystonia, Rigidity OMIM:605407
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Aggressive behavior, Apathy, Gait disturbance, Frontotemporal dementia, Cerebral cortic... OMIM:600795
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Dysmetria, Cogn... OMIM:617145
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Generalized hypotonia, Hypotonia, Absent septum pellucidum, Chorea, Hypoplasia of the c... ORPHA:88616
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Aggressive behavior, Spastic paraparesis, Cerebral atrophy,... OMIM:615157
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Dystonia, Central hypothyroidism, Ataxia OMIM:616113
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Caribbean Parkinsonism
Dystonia, Rigidity, Dementia, Progressive gait ataxia, Midline brain calcifications, Action tremo... ORPHA:97355
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Opacification of the c... OMIM:180900
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Gait ataxia, Basal ganglia cysts, Atrophy/Degeneration involving the cauda... ORPHA:225154
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Cerebral atrophy, Basal ganglia calcification, Microcephaly OMIM:610181
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Difficulty walking, Chorea, Ataxia, Microcephaly OMIM:615673
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Joubert Syndrome 31
Generalized hypotonia, Truncal ataxia, Hypoplasia of the corpus callosum, Cognitive impairment, M... OMIM:617761
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Lower limb hyperton... OMIM:614898
Dystonia 16
Postural tremor, Bradykinesia, Torticollis, Unsteady gait, Limb dystonia ORPHA:210571
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia, Microcephaly OMIM:612390
Baker-Gordon Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Self-injurious behavior, Ataxia, Choreoathetosis OMIM:618218
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Generalized hypotonia, Gait disturbance, Hypertonia, Spasti... ORPHA:352649
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hypertonia, Anxiety OMIM:606703
Corticobasal Syndrome
Tremor, Dystonia, Akinesia, Dementia, Gait disturbance, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Leukodystrophy, Hypomyelinating, 14
Dystonia, Generalized hypotonia, Cerebral atrophy, Microcephaly, Spasticity OMIM:617899
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Secondary mic... OMIM:618404
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Dementia, Chorea, Cerebral atrophy, Ataxia, Cerebral cortical atrophy, Unsteady... ORPHA:79263
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Abnormal cerebral white matter morphology, Dystonia OMIM:617557
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Rigidity, Spastic paraparesis, Gait disturbance, Abnormal globus pallidus morphology, B... ORPHA:289560
Primary Dystonia, Dyt21 Type
Paroxysmal dystonia, Axial dystonia, Dystonia, Blepharospasm, Laryngeal dystonia, Torticollis, Ge... ORPHA:306734
Developmental And Epileptic Encephalopathy 69
Inability to walk, Dystonia, Corpus callosum atrophy, Muscular hypotonia of the trunk, Cerebral c... OMIM:618285
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Lethargy, Dystonia, Rigidity, Limb hypertonia, Irri... OMIM:233910
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Attention deficit hyperactivity disorder, Pachygyria, Abnormal caudate n... ORPHA:300573
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Torsion dystonia OMIM:314250
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
3-Methylglutaconic Aciduria, Type I
Self-mutilation, Dystonia, Dementia, Abnormal cerebral white matter morphology, Cerebral atrophy,... OMIM:250950
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Generalized hypotonia, Gait disturbance, Ataxia, Rigidity OMIM:618239
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Spasticity, Muscular hypotonia of the trunk, Cerebral cortical atrophy, Microcephaly, A... OMIM:617669
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... OMIM:205100
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Cognitive impairment, Dystonia, Ataxia ORPHA:1171
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia, Abnormality of the basal ganglia, ... ORPHA:67046
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Generalized hypotonia, Ataxia, Elongated superior cerebel... OMIM:609583
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Hypotonia, Head tremor, Difficulty walking, Spastic tetraparesis, Ataxia, Muscular hypo... ORPHA:280219
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Dystonia, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus... OMIM:612389
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Aggressive behavior, Akinesia, Limb at... OMIM:607454
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Generalized hypotonia, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculo... OMIM:617384
Neurodegeneration With Brain Iron Accumulation
Chorea, Dystonia, Rigidity, Spasticity ORPHA:385
Adult Krabbe Disease
Progressive neurologic deterioration, Progressive spastic paraparesis, Impaired tactile sensation... ORPHA:206448
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Rigidity, Chorea, Torticollis, Choreoathetosis ORPHA:98810
Spinocerebellar Ataxia Type 11
Difficulty walking, Progressive cerebellar ataxia, Dystonia, Gait imbalance ORPHA:98767
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Aicardi-Goutieres Syndrome 3
Dystonia, Generalized hypotonia, Hypotonia, Hypoplasia of the corpus callosum, Abnormal cerebral ... OMIM:610329
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Mental Retardation, Autosomal Recessive 6
Tremor, Dystonia OMIM:611092
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Progressive gait ataxia, Hypoplasia of the corpus callosum,... ORPHA:289494
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Unsteady gait, Dysmetria, Intention tremor, Infantile musc... ORPHA:453521
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Chorea, Progressive spastic quadriplegia... ORPHA:309246
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Neonatal hypotonia, Head titubation, Cognitive impairment,... OMIM:617560
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Dystonia, Hypotonia, Hypertonia, Spastic tetraplegia, Simplified gyr... OMIM:619302
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Aggressive behavior, Hypotonia, Microcephaly, Attention deficit hyperactivity disorder,... OMIM:619157
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Manganese Poisoning
Postural tremor, Dystonia, Cogwheel rigidity, Aggressive behavior, Akinesia, Gait disturbance, Hy... ORPHA:306682
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Hypotonia, Neonatal hypotonia, Cerebral atrophy, Microcephaly, Choreoathetosis, Spasticity OMIM:616034
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Spasticity OMIM:610246
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Dystonia, Hypotonia, Neonatal hypoto... ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Impaired vibration sensation at ankles, Gait disturbance, Cerebral cortical atrophy, De... ORPHA:101006
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Bradykinesia, Muscular hypotonia of the trunk, Un... OMIM:617435
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypotonia, Hypoplasia... OMIM:618877
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Rigidity, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Cerebral... OMIM:617672
Maxillonasal Dysplasia
Open bite, Short nose, Mandibular prognathia, Tooth agenesis, Cleft palate, Microdontia, Hypoplas... ORPHA:1248
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait OMIM:260300
Joubert Syndrome 27
Molar tooth sign on MRI, Generalized hypotonia, Ataxia OMIM:617120
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology... OMIM:614066
Primary Dystonia, Dyt6 Type
Dystonia, Blepharospasm, Craniofacial dystonia, Lingual dystonia, Laryngeal dystonia, Torticollis... ORPHA:98806
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Cerebral atrophy, Ataxia, Microcephaly OMIM:617804
Leukodystrophy, Hypomyelinating, 2
Dystonia, Rigidity, Spastic paraparesis, Cerebral atrophy, Head titubation, Ataxia, Muscular hypo... OMIM:608804
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla OMIM:601809
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly... OMIM:615415
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Muscular hypotonia of the trunk, Microcephaly, Choreoathetosi... OMIM:612438
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Alveolar process hypopl... OMIM:273050
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Difficulty walking, Chorea, Hypertonia, Upper limb s... ORPHA:300605
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Progressive gait ataxia, Chorea, Psychomotor deterior... ORPHA:157946
Developmental And Epileptic Encephalopathy 16
Dystonia, Generalized hypotonia, Cerebral atrophy, Severe muscular hypotonia, Secondary microceph... OMIM:615338
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Focal T2 hyperintense basal ganglia lesion, Spastic tetraparesis, Bradykinesia, Spastic gait, Hem... OMIM:619052
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Generalized hypotonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Sel... OMIM:617493
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Generalized hypotonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Dysmetria, Ch... OMIM:618088
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Self-injurious behavior, Cerebral atrophy, Prog... OMIM:618917
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Generalized hypotonia, Ataxia OMIM:618224
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
16P11.2P12.2 Microduplication Syndrome
Microcephaly, Dystonia, Attention deficit hyperactivity disorder ORPHA:261204
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Oculogyric crisis, L... ORPHA:238455
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Generalized hypotonia, Bradykinesia, Ataxia, Rigidity OMIM:617836
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Secondary microcephaly, Choreoathetosis, Paroxysmal lethar... OMIM:606777
Dystonia 16
Postural tremor, Gait disturbance, Bradykinesia, Laryngeal dystonia, Limb dystonia, Cognitive imp... OMIM:612067
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Puberty and gonadal disorders, Cerebral white matter atrophy, Difficulty walking, Hypop... ORPHA:464282
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Aggressive behavior, Akinesia, Dementia, Gait disturbance, ... OMIM:606693
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Dystonia, Generalized hypotonia, Hypotonia, Ataxia, Spasticity OMIM:614458
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Dystonia, Generalized hypotonia OMIM:618222
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Generalized hypotonia, Hypergastrinemia, Cerebral... OMIM:252650
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Generalized hypotonia, Ataxia, Leukoencephalopathy, Dysmetria, Secondary microcephaly, ... OMIM:617954
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Diffuse cerebral atro... ORPHA:330050
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Facial hypotonia, Abnormal periventricular white matter morphology, Hypotonia, Difficul... ORPHA:280763
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Generalized hypotonia, Abnormal midbrain morphology, Megale... ORPHA:280195
Kaya-Barakat-Masson Syndrome
Generalized hypotonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Muscular hypotonia of... OMIM:619125
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Joubert Syndrome 25
Molar tooth sign on MRI, Generalized hypotonia, Ataxia OMIM:616781
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Basal ganglia cysts, Dystonia, Lethargy, Generalized hypotonia, Cerebral atrophy... OMIM:312170
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Hypothyroidism, Ataxia, Bradykinesia, Torticollis, Impaired vibrati... ORPHA:98808
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Ataxia, Spastic gait, Lower limb spasticity, Impaired vibration sen... OMIM:607565
Leigh Syndrome
Dystonia, Generalized hypotonia, Hepatocellular necrosis, Focal substantia nigra T2 hyperintensit... OMIM:256000
Leukodystrophy, Hypomyelinating, 20
Dystonia, Punctate periventricular T2 hyperintense foci, Hypoplasia of the corpus callosum, Hyper... OMIM:619071
Gm2-Gangliosidosis, Ab Variant
Dystonia, Generalized hypotonia, Dementia, Chorea, Apathy, Cerebral atrophy, Hypertonia, Spastic ... OMIM:272750
Stickler Syndrome Type 1
Long philtrum, Short nose, Cataract, Cleft palate, Hypoplasia of the maxilla ORPHA:90653
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Cognitive impairment, Choreoathetosis OMIM:601042
Huntington Disease-Like 3
Dystonia, Mental deterioration, Frontal cortical atrophy, Chorea, Ataxia, Unsteady gait, Caudate ... OMIM:604802
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Dementia, Mental deterioration, Limb ataxia, Ataxi... OMIM:208920
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Generalized hypotonia, Difficulty walking, Bradykinesia, Cerebral cortical hemi... ORPHA:306669
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Irritability, Leukoencephalopathy, Progressive... OMIM:618226
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Ataxia, Dysmetria, Diabetes m... ORPHA:96
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Progressive cerebellar ataxia, Focal T2 hypointense basal ganglia lesion, Hypot... ORPHA:139485
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep philtrum, Everted lower... OMIM:137550
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Athetosis, Hypotonia OMIM:615159
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Gait ataxia, Truncal ataxia, Dystonia, Episodic generalized hypotonia, Dysmetria OMIM:601338
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Persistent pupillary membrane, Thin... OMIM:257850
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Abnormal periventricular white matter morphology, Dementia, Progressive gait ataxia, Hy... ORPHA:513436
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Muscular hypotonia of the trunk, Limb hyper... ORPHA:324588
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Premature pubarche, Cerebral atrophy, Irritability, Infantile muscul... ORPHA:457205
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Choreoathetosis, Lethargy, Chorea, Hypertonia, Ataxia, Progressive microcephaly, Spasti... ORPHA:71277
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Hypotonia, Difficulty walking, Hypoplas... ORPHA:561854
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Generalized hypotonia, Caudate atrophy, Adrenal insufficiency, Spastic tetraplegia, Cho... OMIM:618238
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Generalized hypotonia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral ... ORPHA:527497
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Dystonia, Muscular hypotonia of the trunk, Oculogyric crisis, Cognitive impa... OMIM:618049
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Generalized hypotonia, Psychomotor deterioration, Progressive spastic quadriple... OMIM:312080
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Cortical dysplasia, Limb dystonia, Impaired proprioception, Microce... ORPHA:319199
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Resting tremor, Bradykinesia, Short stepped s... ORPHA:391411
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Hypodontia, W... ORPHA:782
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Chorea, Resting tremor, Ataxia, Progressive extrapyramidal muscular... ORPHA:401768
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Abnormal upper motor neuron... OMIM:607694
Developmental And Epileptic Encephalopathy 44
Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Irritabilit... OMIM:617132
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Dystonia, Gait ataxia, Lethargy, Cogwheel rigidity, Chorea, Hypertonia, Action... OMIM:607483
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Generalized hypotonia, Diffi... OMIM:611890
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Dementia, Gait disturbance, Lewy bodies, Ataxia, Emotional lability, Abnormal l... OMIM:614298
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Dystonia, Generalized hypotonia, Hypotonia OMIM:616277
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Dystonia, Neonatal hypotonia, Ataxia, Unsteady gait, Spastic tetraplegia, Mic... OMIM:245349
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Rigidity, Bradykinesia, Progressive extrapyramidal muscular rigidity, Somatic sensory dys... ORPHA:240103
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Muscular hypotonia of the trunk, Oculogyric crisis, Limb hyperton... ORPHA:70594
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Lower limb hypertonia, Ataxia, I... ORPHA:438114
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypotonia, Chorea, Hypoplasia of the corpus callo... ORPHA:178469
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Adrenal insufficiency, Generalized dystonia, Partial agenesis of the corpus callosum OMIM:619025
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Dystonia, Ataxia OMIM:616267
Aicardi-Goutieres Syndrome 7
Dystonia, Generalized hypotonia, Cerebral atrophy, Spastic tetraparesis, Muscular hypotonia of th... OMIM:615846
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Difficulty walking, Chorea, Blepharospasm, Resting tremor, Bradykinesia, Progre... ORPHA:53351
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety, Rigidity OMIM:606324
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Chorea, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis,... ORPHA:382
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Anterior chamber synechiae, Everted lower lip vermilion, H... OMIM:601499
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Aceruloplasminemia
Tremor, Gait ataxia, Dystonia, Rigidity, Akinesia, Limb ataxia, Chorea, Apathy, Blepharospasm, At... ORPHA:48818
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Progressive neurologic deterioration, Dementia, Progressive gait ataxia, Spastic... ORPHA:447757
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ataxia, Cerebral calcification, Leukoencephalopathy, Microcephaly, Athetosis, Focal whi... OMIM:612951
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Rigidity, Dementia, Blepharospasm, Bradykinesia, Unstea... ORPHA:99750
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Dystonia, Hypotonia, Emotional lability, Progressive ... ORPHA:255241
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Ataxia, Intenti... OMIM:617951
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Dementia, Gait disturbance, Blepharospasm, Laryngeal dystonia, Torticollis, U... ORPHA:98805
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Postural tremor, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Cere... ORPHA:447896
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dementia, Dyssynergia, Limb ataxia, Blepharospas... ORPHA:101
Progressive Supranuclear Palsy
Tremor, Dystonia, Dementia, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gait... ORPHA:683
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Generalized hypotonia, Dysmetria, Microcephaly,... OMIM:617988
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Generalized hypotonia OMIM:618244
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Cerebral atrophy, Ataxia, Progressive psychomotor deterior... ORPHA:363400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Choreoathetosis ORPHA:53583
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Generalized hypotonia, Ataxia, Dysmetria, Agenesis of corpus callosum, Hypotonia OMIM:250620
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Dental crowding, Shovel-shaped maxillary central incisors, Subcapsular catarac... OMIM:600907
Peroxisomal Acyl-Coa Oxidase Deficiency
Neonatal hypotonia, Dystonia, Hypertonia, Irritability OMIM:264470
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... ORPHA:98760
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of the maxilla OMIM:156510
Perry Syndrome
Tremor, Dystonia, Rigidity, Akinesia, Apathy, Frontotemporal dementia, Bradykinesia, Anxiety, Sho... OMIM:168605
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Writer's cramp OMIM:608105
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Generalized hypotonia, Ataxia, Microcephaly, Hypotonia OMIM:246900
Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Dystonia, Mental deterioration, Rigidity, Dementia, ... ORPHA:157850
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Chorea, Hypertonia, Cerebral ... OMIM:610217
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Ataxia, Hypogonadotropic hypogonadism, Microcephaly, Athetosis... OMIM:619310
Pycnodysostosis
Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent frontal sinuses, Persiste... OMIM:265800
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Progressive neurologic deterioration, Dystonia, Truncal ataxia, Aplasia/Hypoplasia of the corpus ... ORPHA:88639
Parkinson Disease, Late-Onset
Tremor, Dystonia, Dementia, Resting tremor, Lewy bodies, Bradykinesia, Short stepped shuffling ga... OMIM:168600
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Paroxysmal dystonia, Dementia, Difficulty walking, G... ORPHA:79244
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Wide na... OMIM:616367
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Generalized hypotonia, Toe walking, Spasticity, Dysmetria, Hypotonia OMIM:251950
Developmental And Epileptic Encephalopathy 1
Dystonia, Hypertonia, Spastic tetraparesis, Muscular hypotonia of the trunk, Microcephaly, Choreo... OMIM:308350
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Temporal cortical atrophy, Dementia, Frontal cortical atrophy, Gait disturbance, Fronto... OMIM:167320
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Resting tremor, Bradykinesia, Oculogyric crisis, Abnorm... ORPHA:97349
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Gait disturbance, Psychomotor deterioration,... ORPHA:35069
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Rigidity, Chorea, Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Oculogyric crisis, Fa... ORPHA:13
Choreoacanthocytosis
Dystonia, Aggressive behavior, Dementia, Self-mutilation of tongue and lips due to involuntary mo... OMIM:200150
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Ataxia, Dysmetria, Cognitive i... OMIM:614487
Classic Galactosemia
Postural tremor, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1, Gait disturban... ORPHA:79239
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Generalized hypotonia, Hypotonia, Cerebral atrophy, Athetosis, Abnor... OMIM:612073
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Mental deteriorati... ORPHA:52368
Progressive Myoclonic Epilepsy With Dystonia
Microcephaly, Dystonia, Diffuse cerebral atrophy, Generalized neonatal hypotonia ORPHA:352596
Joubert Syndrome 15
Molar tooth sign on MRI, Generalized hypotonia, Ataxia, Hypotonia OMIM:614464
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Generalized hypotonia, Hypoplasia of the corpus callosum, Hypertonia, Cerebral ... OMIM:617248
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Neonatal hypotonia, Ataxia, Progressive leukoencephalopathy, Leukoencephalopathy, Cogni... OMIM:252011
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Generalized hypotonia, Ataxia OMIM:617757
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Writer's cramp, Torticollis, Oromandibular dystonia OMIM:602124
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Facial hypotonia, Generalized hypotonia, Difficulty walking, Spasticity, U... OMIM:617807
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Generalized hypotonia, Hypergonadotropic hypogonadism,... ORPHA:251347
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Metachromatic Leukodystrophy
Dystonia, Generalized hypotonia, Chorea, Abnormal cerebral white matter morphology, Gait disturba... OMIM:250100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Wide nasal bridge, Cataract, Median cleft palate, Widely-spaced maxi... OMIM:136760
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Christianson Syndrome
Conspicuously happy disposition, Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the... ORPHA:85278
Pyle Disease
Delayed eruption of teeth, Carious teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Abs... OMIM:265900
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Generalized hypotonia, Spasticity, Cognitive impairment, Hypotonia OMIM:614702
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Wide nasal bridge, Malar flattening, Hypoplasia of the maxilla ORPHA:261295
Ataxia-Oculomotor Apraxia Type 4
Cognitive impairment, Somatic sensory dysfunction, Dystonia, Ataxia ORPHA:459033
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Hypoplasia of the corpus callosum, Cerebral atrophy, Athetosis OMIM:615473
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Truncal ataxia, Generalized hypotonia, Hypoplasia of the corpus callosum, Intention tre... OMIM:614407
Parkinsonian-Pyramidal Syndrome
Dystonia, Dementia, Lewy bodies, Bradykinesia, Intention tremor, Cognitive impairment, Substantia... ORPHA:171695
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Subcortical cerebral atrophy, Abnormality of... ORPHA:1929
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Axial dystonia, Dystonia, Akinesia, Blepharospasm, Bradykinesia, Progressive extrapyramid... ORPHA:240071
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Oligodontia, Tooth malposition, Narrow mouth, Short nose, Abnormality of canine, Abno... ORPHA:363417
Multiple System Atrophy, Cerebellar Type
Postural tremor, Gait ataxia, Axial dystonia, Limb ataxia, Apathy, Resting tremor, Bradykinesia, ... ORPHA:227510
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Torticollis, Limb dystonia, Choreoathetosis, Hypotonia OMIM:619054
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Dystonia, Type II lissencephaly, Spastic diplegia, Emotional labilit... ORPHA:300570
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Dystonia, Progressive cerebellar ataxia, Globus pallidus hypointensity on susceptibility-weighted... OMIM:618868
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hypotonia ORPHA:139406
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dystonia, Abnormal caudate nucleus morphology, Dementia, Pallidal degeneration, Chorea, A... ORPHA:25
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Dental malocclusion, Increased overbite, High palate, Retrognathia,... OMIM:613684
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hypertonia, Infantile muscular hypotonia, Microcephaly ORPHA:26792
Supranuclear Palsy, Progressive, 1
Tremor, Axial dystonia, Neurofibrillary tangles, Akinesia, Apathy, Bradykinesia, Neuronal loss in... OMIM:601104
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Eye of the tiger anomaly of globus pallidus, Gait disturbance, Toe walking, Op... ORPHA:216866
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Frontotemporal dementia, Amyotrophic lateral sclerosis, Dystonia OMIM:300857
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Chorea, Limb ataxia, Intention tremor, Impaired visuall... ORPHA:95
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Paroxysmal dystonia, Hypoplasia of the corpus callosum, Lower limb h... ORPHA:2524
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary t... ORPHA:730
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Ataxia OMIM:619065
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Juvenile cataract, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Aplasia/Hypoplasia of the corpus callosum, Hypotonia, Gait disturbanc... ORPHA:765
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Dystonia, Hypoplasia of the corpus callosum, Hypoplastic hipp... ORPHA:208447
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hypoplastic hippocampus, Ataxia, Muscular hypotonia of the t... OMIM:619317
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Akinesia, Dementia, Rigidity, Resting tremor, Lewy bodies, Cerebral cort... OMIM:616840
Young-Onset Parkinson Disease
Tremor, Dystonia, Rigidity, Dementia, Apathy, Bradykinesia, Panic attack, Anxiety, Cognitive impa... ORPHA:2828
Alzheimer Disease 3
Dystonia, Neurofibrillary tangles, Dementia, Gait disturbance, Spastic tetraparesis, Cerebral cor... OMIM:607822
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Birk-Landau-Perez Syndrome
Dystonia, Difficulty walking, Ataxia, Muscular hypotonia of the trunk, Limb hypertonia, Cognitive... OMIM:617595
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Joubert Syndrome 28
Molar tooth sign on MRI, Generalized hypotonia, Ataxia OMIM:617121
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia OMIM:616684
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Generalized hypotonia, Chorea, Hypoplasia of the corpus callosum, Ce... OMIM:618004
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Combined Oxidative Phosphorylation Deficiency 35
Dystonia, Generalized hypotonia, Cerebral atrophy, Microcephaly, Spasticity OMIM:617873
Continuous Spikes And Waves During Sleep
Cognitive impairment, Dystonia, Aggressive behavior, Motor deterioration ORPHA:725
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Gait ataxia, Axial dystonia, Apathy, Resting tremor, Bradykinesia, Progressive c... ORPHA:98933
Galactosemia
Postural tremor, Dystonia, Lethargy, Decreased serum insulin-like growth factor 1, Gait disturban... ORPHA:352
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Bradykinesia, Muscular hypotonia of the trunk, Limb dystonia, Rigidity OMIM:613135
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Generalized hypotonia, Hypertonia, Cerebral atrophy, Secondary microcephaly, Hypotonia OMIM:614654
Aarskog-Scott Syndrome
Delayed eruption of teeth, Long philtrum, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Narrow mouth, Abnormal palate morphology, Wide nasal bridge, Malar ... ORPHA:2412
Parkinson Disease 1, Autosomal Dominant
Dystonia, Rigidity, Dementia, Gait disturbance, Resting tremor, Lewy bodies, Bradykinesia, Mental... OMIM:168601
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Limb dystonia, Ha... ORPHA:420485
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Microcephaly, Athetosis, Hy... ORPHA:52503
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Generalized hypotonia, Choreoathetosis, Ataxia OMIM:618416
Joubert Syndrome 7
Hypoplasia of the brainstem, Generalized hypotonia, Brainstem dysplasia, Ataxia, Abnormal corpus ... OMIM:611560
Partington Syndrome
Lower limb spasticity, Focal dystonia, Limb dystonia OMIM:309510
Baralle-Macken Syndrome
Inability to walk, Dystonia, Neonatal hypotonia, Microcephaly, Spasticity OMIM:619255
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Hypoplasia of the maxilla ORPHA:1529
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Supranuclear Palsy, Progressive, 2
Postural tremor, Axial dystonia, Neurofibrillary tangles, Akinesia, Apathy, Bradykinesia, Neurona... OMIM:609454
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Generalized hypotonia, Irritability, Spastic tetraplegia