Gene Summary

Name:
dopa decarboxylase
Synonyms:
Aadc,  aromatic L-amino acid decarboxylase

IMPC Data Collections

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 tooth morphology Ddcem1(IMPC)Hmgu HET Early adult 7.29×10-05
preweaning lethality, complete penetrance Ddcem1(IMPC)Hmgu HOM   Early adult 1.79×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ddc 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Ptosis, Diminished movem... OMIM:608643

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... ORPHA:401901
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Gait disturbance, Parkinsonism, Violent behavior, Inertia, Rigidity, Frequent falls, ... ORPHA:216873
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Corticobasal Syndrome
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Dementia, Li... ORPHA:454887
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... OMIM:607454
Segawa Syndrome, Autosomal Recessive
Rigidity, Ptosis, Myoclonus, Abnormality of extrapyramidal motor function, Hypokinesia, Tremor, P... OMIM:605407
Manganese Poisoning
Postural tremor, Dystonia, Gait disturbance, Aggressive behavior, Abnormality of extrapyramidal m... ORPHA:306682
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Kufor-Rakeb Syndrome
Gait disturbance, Dystonia, Babinski sign, Dementia, Rigidity, Torticollis, Aggressive behavior, ... OMIM:606693
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Happy demeanor, Paresthesia, Rigidity, Tremor by anatomical... ORPHA:97349
Taurodontism
Taurodontia OMIM:272700
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety,... OMIM:606438
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... ORPHA:99
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Conjunctival hyperemia, Gait imbalance, Axial dystonia, Impulsivity, Fall... ORPHA:240071
Perry Syndrome
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... OMIM:168605
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Aceruloplasminemia
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Cognitive impairment, Apathy, Tre... ORPHA:48818
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... ORPHA:391411
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Dementia, Tremor by anatomical site, Cognitive i... ORPHA:98762
Huntington Disease-Like 1
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiet... OMIM:603218
Spinocerebellar Ataxia Type 28
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Ptosis, Cognitive impairment, Spasticity, Head... ORPHA:101109
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... ORPHA:98811
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hypertonia, I... OMIM:261630
Spinocerebellar Ataxia 48
Dystonia, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... OMIM:618093
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorde... OMIM:617182
Huntington Disease
Clumsiness, Gait imbalance, Apathy, Irritability, Anxiety, Gait disturbance, Clonus, Bradyphrenia... ORPHA:399
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Ptosis, Myoclonus, Abnormality of extrapyramidal motor ... ORPHA:101150
Spinocerebellar Ataxia 17
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Frontal lobe dem... OMIM:607136
Spinocerebellar Ataxia Type 21
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... ORPHA:98773
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Huntington Disease-Like 2
Involuntary movements, Dystonia, Gait disturbance, Dementia, Chorea, Parkinsonism, Memory impairment ORPHA:98934
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Diminished movement, Limb apraxi... ORPHA:240103
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Dementia, Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia,... ORPHA:240094
Choreoathetosis, Familial Inverted
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign OMIM:118750
Juvenile Huntington Disease
Dystonia, Dementia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebel... ORPHA:248111
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... OMIM:616413
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Ptosis, Spastic gait, Spastic dysarthria, Lower... ORPHA:251282
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Abnormal social behavior, Lethargy, Gait ... ORPHA:255
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Gait disturbance, Dementia, Emotional lability, Chorea OMIM:607674
Alternating Hemiplegia Of Childhood 2
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia, Mental deterio... OMIM:614820
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Difficulty walking, Ptosis, Frequent falls OMIM:616227
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentatorubral-Pallidoluysian Atrophy
Dementia, Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Epicanthus, Stereotypy... OMIM:618218
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Dementia, Rigidity, Writer's cramp, Choreoathetosis, Chorea, Bradykinesi... OMIM:606159
Hereditary Late-Onset Parkinson Disease
Dystonia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Frequent fall... ORPHA:411602
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Episodic hemiplegia, Mental deteri... OMIM:104290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Dementia, Ptosis, Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus,... OMIM:609286
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... OMIM:615483
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Huntington Disease
Dementia, Rigidity, Chorea, Bradykinesia, Gait ataxia, Depression OMIM:143100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental deterioration,... OMIM:618317
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability OMIM:612126
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Gait disturbance, Ptosis, Spastic ataxia, Spastic paraplegia, Memory impairment OMIM:108600
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Bradykinesia, Tremor, ... OMIM:261640
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Dystonia, Gait disturbance, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Ptosis, Chorea, Myoclonus, Falls, Brad... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysd... ORPHA:247234
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... OMIM:606703
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Ptosis OMIM:616330
Sydenham Chorea
Inappropriate behavior, Chorea, Emotional lability, Irritability, Unsteady gait, Hemiballismus ORPHA:306731
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... OMIM:614254
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity, Depression OMIM:615889
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Ocul... OMIM:612716
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Severe postnatal growth retardatio... ORPHA:561854
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity OMIM:611105
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Short stature, Chorea, ... ORPHA:309246
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Spastic hemiparesis, Apathy, Irritability, Progressive forgetfulness, Abnormal pyrami... ORPHA:282166
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Dementia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebell... ORPHA:98756
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Dystonia, Gait disturbance, Dementia, Rigidity, Eyelid apraxia, Choreoathetosis, Ab... OMIM:234200
Glut1 Deficiency Syndrome 1
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Paroxysmal lethargy, Myoclonus, H... OMIM:606777
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Chorea, Epicanthus, Ataxia, Inability to walk, Synophrys OMIM:617804
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation
Dystonia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spasticity ORPHA:385
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability OMIM:616657
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia OMIM:617018
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression ORPHA:88616
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Dementia, Frequent falls, Dysmetria, Chorea,... ORPHA:157941
3-Methylglutaconic Aciduria, Type Iii
Babinski sign, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor function, Ataxia... OMIM:258501
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Short stature, Poor coordination, Aggressive behavior, Epicanthu... OMIM:309548
Infantile Dystonia-Parkinsonism
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypokinesia, Hyper... ORPHA:238455
Parkinson Disease 23, Autosomal Recessive Early-Onset
Parkinsonism, Dementia, Rigidity, Resting tremor, Spasticity, Akinesia, Mental deterioration, Abn... OMIM:616840
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Ptosis, Diminished movem... OMIM:608643
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 1
Impaired proprioception, Gait disturbance, Dystonia, Postural tremor, Gait imbalance, Dysmetria, ... ORPHA:98755
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postnatal growth retardat... ORPHA:391417
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Chorea, Spasticity OMIM:613970
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Paroxysmal choreoathetosis, Difficulty walking, Frequent falls OMIM:500003
Fraxe Intellectual Disability
Clumsiness, Intrauterine growth retardation, Short stature, Aggressive behavior, Epicanthus, Hype... ORPHA:100973
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Ptosis, Chorea, At... ORPHA:401768
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Growth delay, Bradycardia, Tremor, Hypertonia OMIM:617248
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Adrenal insufficiency, Intrauterine growth retardation, Ptosis, Choreoathetosis, Spasti... OMIM:618238
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic... OMIM:617270
Supranuclear Palsy, Progressive, 1
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Falls, Bradykine... OMIM:601104
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Early-Onset X-Linked Optic Atrophy
Babinski sign, Choreoathetosis, Intention tremor, Dysdiadochokinesis, Emotional lability, Gait at... ORPHA:98890
Dystonia With Ringbinden
Dystonia, Gait disturbance, Chorea OMIM:224550
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism, Depression OMIM:614307
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity OMIM:616981
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Congestive ... ORPHA:324588
Neuroferritinopathy
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... ORPHA:157846
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Choreoathetosis OMIM:271930
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Growth delay, Ptosis, Choreoathetosis, Self-mutilation, Tremor, Ataxia OMIM:619422
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Poor eye contact, Ataxia, Inability to walk, Gait ataxia OMIM:618501
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Intrauterine growth retardation, Short stature, Ptosis OMIM:608747
Developmental And Epileptic Encephalopathy 27
Dystonia, Chorea, Spasticity OMIM:616139
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... OMIM:233910
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Dystonia, Babinski sign, Choreoathetosis, Ptosis, Chorea, Poor eye contact, Spasticity OMIM:618451
Supranuclear Palsy, Progressive, 2
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia,... OMIM:609454
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety ORPHA:494541
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor OMIM:300660
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnormality of e... ORPHA:500180
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... OMIM:612953
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Ptosis, Chorea, Truncal titubati... OMIM:607483
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety OMIM:602066
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Cardiac arrest, Epicanthus OMIM:618951
Ataxia-Telangiectasia-Like Disorder
Dystonia, Short stature, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Ataxia, ... ORPHA:251347
Combined Oxidative Phosphorylation Deficiency 15
Short stature, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyra... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Hypogonadism, Truncal ataxia, Spasticity, Ankle clon... OMIM:615768
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Bradykinesia, Hypokinesia, Dysdiadochokinesis OMIM:609161
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Growth delay, Atrioventricular block, Bradycardia, Intention tremor, Truncal ataxia, Lo... OMIM:614407
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis OMIM:616304
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Tongue fasciculations, Short stature, Akinesia OMIM:618822
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... ORPHA:485350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Short stature, Aggressive behavior, Shuffling gait, Lower... ORPHA:3077
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Epicanthus, Short stature ORPHA:85288
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Ataxia, S... OMIM:617672
African Trypanosomiasis
Impaired proprioception, Abnormal prolactin level, Third degree atrioventricular block, Myocardit... ORPHA:3385
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Spinocerebellar Ataxia Type 17
Involuntary movements, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Writer's cramp, Tortic... ORPHA:98759
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... OMIM:617225
Trisomy X
Upslanted palpebral fissure, Cognitive impairment, Epicanthus, Tremor, Anxiety, Attention deficit... ORPHA:3375
Sneddon Syndrome
Hypertension, Dementia, Intracranial hemorrhage, Chorea, Hemiparesis, Tremor, Mental deterioratio... ORPHA:820
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short stature, Chorea, Spastic tetraplegia, Inability to walk, Hypertonia, Irritability, Spastici... OMIM:617864
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Mental deterioratio... OMIM:615924
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Atypical Rett Syndrome
Inappropriate crying, Poor eye contact, Panic attack, Impaired social interactions, Gait disturba... ORPHA:3095
Pyruvate Dehydrogenase Deficiency
Dystonia, Gait disturbance, Intrauterine growth retardation, Growth delay, Choreoathetosis, Cereb... ORPHA:765
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hypertonia, Intrauterine growth retardation, Bradycardia OMIM:614654
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis ORPHA:67047
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Apathy, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Chorea, Mental deterioration OMIM:616922
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... OMIM:300055
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression OMIM:605909
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Leukodystrophy, Hypomyelinating, 6
Dystonia, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity OMIM:612438
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Choreoathetosis, Ptosis, Episodic ataxia, Lethargy OMIM:312170
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Dystonia, Babinski sign, Progressive psychomotor deterioration, Orthostatic hypotensi... ORPHA:309271
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chorea, Ptosis, Abno... OMIM:615673
Spinocerebellar Ataxia 37
Unsteady gait, Ataxia, Tremor, Frequent falls OMIM:615945
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Short stature, Stereotypy DECIPHER:8
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... ORPHA:382
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Ataxia, Tre... OMIM:208920
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... ORPHA:101
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... ORPHA:397946
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Falls, Shuffling gait, Bradykinesia, Apath... ORPHA:412066
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Pontocerebellar Hypoplasia, Type 2D
Chorea, Clonus, Irritability, Spastic tetraplegia OMIM:613811
Lipoyltransferase 1 Deficiency
Dystonia, Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Bradycar... OMIM:616299
Developmental And Epileptic Encephalopathy 1
Dystonia, Growth delay, Choreoathetosis, Spastic tetraparesis, Hypertonia, Abnormal pyramidal sig... OMIM:308350
Autosomal Recessive Progressive External Ophthalmoplegia
Paresthesia, Ptosis, Cognitive impairment, Shuffling gait, Bradykinesia, Cogwheel rigidity, Cardi... ORPHA:254886
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... OMIM:618917
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Decreased circulating free T3, Growth delay, Ptosis, Short statur... ORPHA:171706
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Short stature, Chorea, Hypogonadotropic hypogonadism, Cognitive impairment, Decrea... OMIM:604168
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Ptosis, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, Gait ataxia OMIM:610246
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Short stature, Ptosis, Chorea, Self-mutilation, Hyperactivity, Ataxia, Hyper... ORPHA:52503
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Dental malocclusion OMIM:616108
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Huntington Disease-Like 3
Dystonia, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor function, Extrapyrami... ORPHA:157946
Spinocerebellar Ataxia 47
Short stature, Ptosis, Dysmetria, Chorea, Ataxia, Spasticity OMIM:617931
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, B... ORPHA:95717
Arthrogryposis Multiplex Congenita 5
Dystonia, Intrauterine growth retardation, Growth delay, Ptosis, Hand tremor, Upslanted palpebral... OMIM:618947
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Aceruloplasminemia
Dementia, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel rigidity, A... OMIM:604290
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
2,4-Dienoyl-Coa Reductase Deficiency
Tetraplegia, Dystonia, Spasticity, Choreoathetosis OMIM:616034
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Short stature, Hypogonadism, Ataxia, Postnatal growth retardation OMIM:616113
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cogn... OMIM:608804
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Ptosis, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Ocu... OMIM:618049
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Epicanthus, Multiple pterygia, Akinesia OMIM:253290
Rare Non-Syndromic Intellectual Disability
Dystonia, Ptosis, Emotional lability, Spasticity, Difficulty walking ORPHA:101685
Gaucher Disease, Perinatal Lethal
Opisthotonus, Intrauterine growth retardation, Neonatal death, Apathy, Progressive neurologic det... OMIM:608013
Friedreich Ataxia
Impaired proprioception, Dystonia, Babinski sign, Gait imbalance, Impaired visually enhanced vest... ORPHA:95
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Dementia, Bilateral ptosis, Cognitive impairment, Ataxia, Depression ORPHA:329314
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Arrhythmia... OMIM:614860
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Pterygium, Akinesia, Hypokinesia ORPHA:994
Xq25 Microduplication Syndrome
Highly arched eyebrow, Short stature, Abnormality of the palpebral fissures, Epicanthus, Sparse e... ORPHA:521258
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Gait disturbance, Inappropriate crying, Ptosis, Cognitive impairment, Shuffling gait, T... ORPHA:352649
Jaberi-Elahi Syndrome
Dystonia, Sparse eyelashes, Choreoathetosis, Dysmetria, Sparse eyebrow, Tremor, Inability to walk... OMIM:617988
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... OMIM:615157
Coffin-Siris Syndrome 8
Ptosis, Self-injurious behavior, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow OMIM:618362
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Downslanted palpebral fissures, Tremor, Waddling gait OMIM:617557
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... OMIM:619191
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Vocal cord paralysis, Tach... OMIM:605373
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Short stature, Epicanthus, Sparse eyebrow, Hyperactivity, Thick eyebrow, A... OMIM:300979
Mental Retardation, Autosomal Recessive 48
Narrow palpebral fissure, Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk... OMIM:616269
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Cognitive impairment, Episodic ataxia, Spastic paraplegia... OMIM:601042
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Chorea, Progressive neurologic deterioration, Ataxia, Inability to w... ORPHA:70472
Otodental Dysplasia
Hypodontia, Pulp calcification, Taurodontia, Long philtrum OMIM:166750
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Ptosis, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairmen... ORPHA:363400
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Neurodevelopmental Disorder With Involuntary Movements
Athetosis, Dystonia, Involuntary movements, Self-injurious behavior, Chorea, Hyperkinetic movemen... OMIM:617493
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Spastic tetraplegia, Hypertonia, Hypothyroidism, Akinesia OMIM:619147
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Irritability, Tongue fasciculations, Hypokinesia ORPHA:238329
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Short stature, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, ... OMIM:312080
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Choreoacanthocytosis
Dystonia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involu... OMIM:200150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Short stature, Stereotypy OMIM:617862
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Dystonia, Dopa-Responsive
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Choreoathetosis, Torticollis, Frequent falls, Ataxia, Limb dystonia OMIM:619054
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Folinic Acid-Responsive Seizures
Dystonia, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, Irritability, Broad-based gait, Diffi... ORPHA:79097
Developmental And Epileptic Encephalopathy 84
Dystonia, Babinski sign, Opisthotonus, Ptosis, Chorea, Epicanthus, Short palpebral fissure, Spast... OMIM:618792
Birk-Landau-Perez Syndrome
Dystonia, Limb hypertonia, Choreoathetosis, Ptosis, Cognitive impairment, Ataxia, Oculomotor apra... OMIM:617595
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Anxiety, Dysmetria, Bradykinesia, Impaired tandem gait, Intention trem... OMIM:300623
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Arthrogryposis Multiplex Congenita 6
Neonatal death, Akinesia OMIM:619334
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gait disturbance, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Hypokine... OMIM:168601
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Tachycardia, Tremor, Pancrea... ORPHA:276608
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Goiter, Ventricular arrhythmia, Diabetes mellitus, Anxiety, Lethargy, Gai... ORPHA:254892
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Falls, Shuffling gait, Bradykinesia, Apathy, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Ptosis, Chorea, Upslanted palpebral fissure, Epicanthus, Lower ... OMIM:300260
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Ptosis, Short stature, Myoclonus, Downslanted p... ORPHA:442835
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Chorea, Poor eye contact, Inability to walk, Spasticity OMIM:618557
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Arm dystonia, Clonus, Opisthotonus, Axial dystonia, Head titubation, Upper limb spastic... ORPHA:300605
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Unsteady gait... OMIM:604802
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, D... ORPHA:96
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... OMIM:300894
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... ORPHA:101110
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Aggressive behavior, Stereotypy, Hyperactivity, Synophrys OMIM:615541
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dementia, Inappropriate behavior, Tremor by anatomical site, Rigidity, Falls, Brady... ORPHA:99750
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... OMIM:272750
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature, Hypogonadism OMIM:312910
Pettigrew Syndrome
Self-injurious behavior, Gait ataxia, Spasticity, Choreoathetosis OMIM:304340
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Paresthesia, Palpitations, Hyperinsulinem... ORPHA:97279
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Akinesia OMIM:607598
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Short stature, Tremor, Ataxia, Hypogonadism, Irritability, Emotional lability, Decrease... OMIM:201100
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Intrauterine growth retardation, Akinesia OMIM:225790
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Positive perchlorate discharge test, Increased radioactive iod... ORPHA:95716
Mental Retardation, Autosomal Dominant 57
Short stature, Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus, Tip-toe gait, Anxiet... OMIM:618050
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Ptosis, Abnormality of extrapyrami... ORPHA:275872
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Poor eye contact, Thick eyebrow, Abnormal social behavior, Anxiety, Attention... ORPHA:444002
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait disturbance, Babinski sign, Inappropriate crying, Chorea, Bradykinesia, Resting tr... ORPHA:225147
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor OMIM:616710
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... OMIM:260300
Caribbean Parkinsonism
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypoten... ORPHA:97355
Obesity Due To Sim1 Deficiency
Cognitive impairment, Postural hypotension with compensatory tachycardia, Attention deficit hyper... ORPHA:369873
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Riboflavin Transporter Deficiency
Hypertension, Diabetes insipidus, Ptosis, Aggressive behavior, Myoclonus, Tremor, Ataxia, Hypogon... ORPHA:97229
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Tetraplegia, Fasciculations, Hypokinesia OMIM:300816
Wernicke-Korsakoff Syndrome
Ataxia, Memory impairment, Ptosis OMIM:277730
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea ORPHA:98809
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Aggressive behavior, Hypokinesia, Ataxia, Tongue fasciculations OMIM:614707
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Growth delay, Rigidity, Ptosis, Cerebral palsy, Cognitive impairment, ... ORPHA:70594
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Upslanted palpebral fissure, Aggressive behavior, Epicanthus, Telecanthus, Hyperac... OMIM:615286
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Ptosis, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Ptosis, Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal... OMIM:614831
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Ptosis OMIM:618637
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Choreoathetosis, Dysmetria, Ataxia, Spasticity OMIM:618088
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Frequent falls OMIM:618197
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Hypokinesia OMIM:618184
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior, Short stature OMIM:276880
Alexander Disease
Gait disturbance, Clonus, Hypertension, Ptosis, Self-injurious behavior, Chorea, Depression, Trem... ORPHA:58
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Growth delay, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid... ORPHA:90674
Developmental And Epileptic Encephalopathy 64
Dystonia, Limb hypertonia, Chorea, Epicanthus, Hemiparesis, Inability to walk OMIM:618004
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Impaired distal proprioception, Rigidity, Ptosis, Steppage gait, Mitral regurgitation, Bradykines... OMIM:258450
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
X-Linked Adrenoleukodystrophy
Clumsiness, Gait disturbance, Paralysis, Adrenal insufficiency, Dementia, Aggressive behavior, Co... ORPHA:43
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Babinski sign, Limb hypertonia, Intrauterine growth retardation, Lower lim... ORPHA:565624
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Deficit in phonologic short-term memory, Gait imbalance, Bilateral ptosis, Cardiomyopathy, Limb d... ORPHA:329336
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Irritability, Choreoathetosis OMIM:609056
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Syncope, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sens... OMIM:603472
Infantile Convulsions And Choreoathetosis
Athetosis, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Paroxysmal dyskinesia ORPHA:31709
Alternating Hemiplegia Of Childhood
Dystonia, Abnormal T-wave, Thin eyebrow, Rigidity, Choreoathetosis, Cardiac conduction abnormalit... ORPHA:2131
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... OMIM:212138
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairment, Spasti... OMIM:616795
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Dystonia, Babinski sign, Hypertrophic cardiomyopathy, Short stature, Ptos... OMIM:252011
4H Leukodystrophy
Dystonia, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyramidal ... ORPHA:289494
Subacute Inflammatory Demyelinating Polyneuropathy
Gait disturbance, Choreoathetosis, Steppage gait, Frequent falls, Positive Romberg sign, Distal s... ORPHA:206594
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Dystonia, Growth delay, Choreoathetosis, Chorea, Hemiplegia/hemiparesis ORPHA:289916
Developmental And Epileptic Encephalopathy 40
Myoclonus, Spasticity, Choreoathetosis OMIM:617065
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Ptosis, Hemiplegia ORPHA:2997
Progressive Supranuclear Palsy
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synapti... ORPHA:683
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Ptosis, Dysmetria, Hand tremor, Fasciculations, Intention tremor, ... ORPHA:276198
Combined Oxidative Phosphorylation Deficiency 13
Dystonia, Growth delay, Choreoathetosis OMIM:614932
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Impulsivity OMIM:619028
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Ptosis, Frontal lobe dementia, Ataxia, Frontotemporal dementia, Parkinsonism OMIM:615911
Ataxia-Telangiectasia-Like Disorder 1
Dystonia, Telangiectasia, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, Dysd... OMIM:604391
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... OMIM:619580
Combined Oxidative Phosphorylation Deficiency 20
Ataxia, Ptosis OMIM:615917
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Hyperactivity,... ORPHA:228360
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Gait disturbance OMIM:164300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Ptosis, Cognitive impairment, Ataxia, Right bundle branch block, Unsteady gait, Ab... OMIM:616479
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Short stature, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticit... ORPHA:178469
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Bradycardia, Hypertonia OMIM:614498
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia,... OMIM:213200
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... OMIM:618877
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Bilateral ptosis, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Diffi... ORPHA:330050
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Ptosis, Loss o... ORPHA:137898
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... OMIM:617145
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Ptosis OMIM:614750
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinsonism, Spastic pa... ORPHA:329284
Spinocerebellar Ataxia 1
Impaired proprioception, Babinski sign, Paresthesia, Impaired distal tactile sensation, Impaired ... OMIM:164400
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Stereotypy OMIM:239500
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:98933
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... OMIM:270500
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Growth delay, Short stature, Ptosis, Spastic tetraparesis, Inability to walk ORPHA:438178
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Choreoathetosis, Aggressive behavior, Progressive neurologic deterio... OMIM:300438
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Babinski sign, Growth delay, Progressive truncal ataxia, Ptosis, Dysmetria, Short stature, Spasti... ORPHA:363429
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Classic Phenylketonuria
Growth delay, Paraplegia, Self-injurious behavior, Tremor, Hypertonia, Hemiplegia, Mental deterio... ORPHA:79254
Hypermanganesemia With Dystonia 2
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Glycine Encephalopathy
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Hypokinesia OMIM:619063
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Ptosis, Choreoathetosis, Inability to walk, Spasticity OMIM:617664
Metachromatic Leukodystrophy
Dystonia, Gait disturbance, Babinski sign, Chorea, Spastic tetraplegia, Tetraplegia, Ataxia, Emot... OMIM:250100
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Inability to walk, Generalized dys... OMIM:619653
Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dementia, Choreoathetosis, Intention tremor, Slurred speech, Attention deficit ... ORPHA:157850
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Nasu-Hakola Disease
Chorea, Frontal lobe dementia, Oculomotor apraxia, Irritability, Disinhibition, Spasticity, Memor... ORPHA:2770
Brain-Lung-Thyroid Syndrome
Clumsiness, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Incoor... ORPHA:209905
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Waddling gait, Difficulty walking, Truncal ataxia ORPHA:369840
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity, Mental d... OMIM:609260
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus, Ptosis OMIM:617235
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... ORPHA:227510
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Mitochondrial Complex I Deficiency, Nuclear Type 12
Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Aggressive behavior, Social and occupational deterioration, Speech... ORPHA:98818
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Short stature, Self-mutilation, Stereotypy, Tremor, Myoc... ORPHA:457240
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Ptosis, Dysmetria, Cognitive impairment, Myoclonus, Spastic ataxia, Ataxia, Oculomotor ... OMIM:614487
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Classic Galactosemia
Clumsiness, Dystonia, Gait disturbance, Postural tremor, Gait imbalance, Decreased serum insulin-... ORPHA:79239
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Lichtenstein-Knorr Syndrome
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Schimke X-Linked Mental Retardation Syndrome
Growth delay, Spasticity, Choreoathetosis OMIM:312840
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short stature, Cerebral palsy, Bilateral ptosis, Upslanted palpebral fissu... ORPHA:352490
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Combined Oxidative Phosphorylation Deficiency 1
Intrauterine growth retardation, Poor eye contact, Hypokinesia, Hypertonia, Spasticity OMIM:609060
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Babinski sign, Choreoathetosis OMIM:612233
Jalili Syndrome
Carious teeth, Amelogenesis imperfecta OMIM:217080
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Hypertension, Dementia, Inertia, Rigidity, Anxiety, Dysmetria, Bradykinesia, In... ORPHA:93256
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Babinski sign, Ptosis, Ataxia, Irritability, Lethargy OMIM:618226
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Increased circulating T4 level, Intrauterine growth retardation, Atria... ORPHA:525731
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Depression, Difficulty walking ORPHA:306669
Poliomyelitis
Paralysis, Hypertension, Hypovolemic shock, Paresthesia, Low self esteem, Diminished movement, Fa... ORPHA:2912
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Clonus, Babinski sign, Limb hypertonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia... OMIM:612389
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Dystonia, Ptosis, Progressive cerebellar ataxia, Emotional lability,... ORPHA:255241
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Ptosis, Pulmonary arterial hypertension, Downslanted palpebral fissures, Repeti... ORPHA:391372
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Growth delay, Spasticity OMIM:278780
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Aggressive behavior, Tremor, Stereotypical body r... ORPHA:86309
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Hypertension, Short stature, Progressive neurologic deterioration, Tremor, Hype... ORPHA:1192
Choreoacanthocytosis
Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Irr... ORPHA:2388
Gand Syndrome
Narrow palpebral fissure, Inappropriate laughter, Tics, Hyperactivity, Blepharophimosis OMIM:615074
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Impaired pain sensation OMIM:167400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Impaired distal tactile sensation, Chorea, Conjunctival telang... OMIM:606002
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... OMIM:265800