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
increased mean corpuscular volume Ddcem1(IMPC)Hmgu HET Early adult 3.20×10-05
decreased mean corpuscular hemoglobin concentration Ddcem1(IMPC)Hmgu HET Early adult 2.96×10-06
preweaning lethality, complete penetrance Ddcem1(IMPC)Hmgu HOM   Early adult 1.79×10-06
abnormal tooth morphology Ddcem1(IMPC)Hmgu HET Early adult 6.72×10-05

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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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 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
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irri... OMIM:608643
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Hypokinesia, Increased circulating prolactin concentration, Tremo... ORPHA:35708

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Manganese Poisoning
Memory impairment, Depression, Confusion, Akinesia, Postural tremor, Cogwheel rigidity, Inappropr... ORPHA:306682
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Corticobasal Syndrome
Involuntary movements, Memory impairment, Somatic sensory dysfunction, Limb myoclonus, Progressiv... ORPHA:454887
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Kufor-Rakeb Syndrome
Spasticity, Hypokinesia, Distal sensory impairment, Parkinsonism, Paraparesis, Torticollis, Ataxi... OMIM:606693
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Depression, Resting tremor, Bilateral ptosis, Akinesia,... ORPHA:97349
Spinocerebellar Ataxia 21
Mental deterioration, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Postural tremor, Abn... OMIM:607454
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m... ORPHA:240071
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dys... OMIM:168605
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Irritability, Aggressive behavior, Lower limb spastic... ORPHA:98811
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Huntington Disease
Mental deterioration, Hypokinesia, Oral-pharyngeal dysphagia, Difficulty walking, Polyphagia, Clo... ORPHA:399
Huntington Disease-Like 1
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Dementia, Unsteady ... OMIM:603218
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor functi... OMIM:605407
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b... OMIM:619150
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Aggressive behav... OMIM:300894
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Spinocerebellar Ataxia 17
Broad-based gait, Depression, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia,... OMIM:607136
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Memory impairment, Spastic ataxia, Ptosis, Gait disturbance, Dystonia, Dysphagia OMIM:108600
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... OMIM:618849
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Hand tremor, Postural tremor, Chorea, Parkinsonism, Motor tics, Co... OMIM:615483
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Memory impairment, Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Difficulty walking, Impaired vibration sensation in the lo... ORPHA:251282
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Myoclonus, Rigidity, Dystonia, Irritability, H... ORPHA:248111
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Emotional lability, Gait disturbance, Dementia, Dysphagia OMIM:607674
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Difficulty walking, Incoordination, Chorea, Myoclonus, Babinski sign, Mo... OMIM:500003
Huntington Disease-Like 2
Involuntary movements, Memory impairment, Chorea, Parkinsonism, Gait disturbance, Dementia, Dystonia ORPHA:98934
Sydenham Chorea
Inappropriate behavior, Chorea, Emotional lability, Irritability, Compulsive behaviors, Unsteady ... ORPHA:306731
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler... ORPHA:411602
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Aceruloplasminemia
Blepharospasm, Involuntary movements, Memory impairment, Congestive heart failure, Chorea, Limb a... ORPHA:48818
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ... OMIM:618093
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ptosis, Fatigable weakness, Ataxia OMIM:616330
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dementia, Dystonia, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Cognitive ... ORPHA:98773
Spinocerebellar Ataxia Type 28
Spasticity, Memory impairment, Depression, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, ... ORPHA:101109
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement, Mental deterioration, Involuntary movements, Memory impairment, Somatic sens... ORPHA:240103
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Memory impairment, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyra... OMIM:618317
Spinocerebellar Ataxia Type 12
Hypokinesia, Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Park... ORPHA:98762
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Memory impairment, Resting tremor, Akinesia, Gait ataxia, Intention t... ORPHA:247234
Chorea, Benign Hereditary
Dementia, Chorea, Gait disturbance, Frequent falls OMIM:118700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Emotional lability, Tremor, Rigidity, Dyst... OMIM:606159
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Hypokinesia, Generalized dystonia, Postural tremor, Gait ataxia, Limb dystonia... ORPHA:101150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Depression, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisth... ORPHA:13
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Diamond-Blackfan Anemia 6
Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Persistence of hem... OMIM:612561
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Depression, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Parkinsonism, Ptosis,... OMIM:609286
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Huntington Disease-Like 2
Memory impairment, Depression, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Demen... OMIM:606438
Neurodegeneration With Brain Iron Accumulation 1
Mental deterioration, Spasticity, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal si... OMIM:234200
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Inability to walk, Chorea, Stereotypical hand wringing, Dystonia OMIM:618760
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Growth delay, Chorea, Action tremor, Tremor, Reduced social reciprocity, Hyperkinetic... OMIM:619738
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Chorea, Abnormality of ext... ORPHA:382
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Increased serum serotonin, Restrictive behavior, Inf... OMIM:608636
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Confusion, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, ... ORPHA:71277
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Dementia, Chorea, Myoclonus, Dysmetria, Tremor, Dystonia, Clumsiness, Cognitive impai... ORPHA:79263
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Ptosis, Frequent falls, Fatigable weakness OMIM:616227
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Inability to walk, Bruxism, Chorea, Inapp... OMIM:614254
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Spinocerebellar Ataxia 50
Memory impairment, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ptosi... OMIM:620158
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Spasticity, Hypokinesia, Inability to walk, Myoclonus, Upslanted palpebral fiss... OMIM:617854
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilation, Aggressiv... OMIM:616269
Developmental And Epileptic Encephalopathy 37
Spasticity, Hypokinesia, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, ... OMIM:616981
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Memory impairment, Depression, Parkinsonism, Cognitive impairment, Dementi... OMIM:616413
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Abnormality of extra... ORPHA:500180
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, ... ORPHA:309169
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Huntington Disease-Like 1
Involuntary movements, Memory impairment, Depression, Hypokinesia, Incoordination, Chorea, Gait a... ORPHA:157941
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Hypokinesia, Attention deficit hyperactivity disorder, Ataxia, Short stature OMIM:620007
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Facial telangiectasia, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity... OMIM:620445
Huntington Disease
Depression, Chorea, Gait ataxia, Rigidity, Dementia, Bradykinesia OMIM:143100
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Action tremor, Opisthotonus, Paraparesis, Abnormal pyramidal si... OMIM:607483
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Cognitive impair... OMIM:258501
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Limb dystonia, Tremor, Aggressive b... OMIM:620270
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytos... ORPHA:98870
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Gordon Holmes Syndrome
Absence of pubertal development, Chorea, Hypogonadotropic hypogonadism, Ataxia, Dementia OMIM:212840
Spinocerebellar Ataxia Type 2
Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kinetic tremor, Dementia, Dys... ORPHA:98756
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Hypokinesia, Cerebral palsy, Chorea, Irritability, Dystonia, Parkinsonism, Abn... ORPHA:238455
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Chorea, Pro... ORPHA:309246
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Myoclonus, Intractable, Neonatal
Chorea, Myoclonus, Ptosis, Athetosis, Dysphagia, Impaired oral bolus formation OMIM:617235
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick sinus syndrome, Poor f... OMIM:617182
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Postural tremor, Axial... OMIM:609454
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Spasticity, Inability to walk, Chorea, Rigidity, Abnormality of extrapyrami... OMIM:617672
Striatal Degeneration, Autosomal Dominant 1
Hypokinesia, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism... OMIM:616840
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Dysph... OMIM:620427
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ... OMIM:606703
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Inherited Creutzfeldt-Jakob Disease
Depression, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Gait ataxia, Spastic... ORPHA:282166
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra... OMIM:615362
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Difficulty walking, Chorea, Myo... ORPHA:324588
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Gait disturbance, Parkinsonism with favorabl... OMIM:616710
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Congestive hear... ORPHA:3077
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Frontal l... ORPHA:157846
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Limb dystonia, Axial d... OMIM:601104
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irri... OMIM:608643
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyper... OMIM:615924
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Memory impairment, Fasciculations, Chorea, Gait imbalance, Postura... ORPHA:98755
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dysto... OMIM:617493
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w... OMIM:618917
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Chorea, Intrauterine growth retardation, Dystonia, Athetosis, Spastic te... OMIM:619922
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Hypokinesia, Increased circulating prolactin concentration, Tremo... ORPHA:35708
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoatheto... OMIM:617270
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Myopathy With Extrapyramidal Signs
Growth delay, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, E... OMIM:615673
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Depression, Chorea, Myoclonus, Aggressive... ORPHA:485350
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Truncal ataxia OMIM:618587
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hypertonia, Progressive neurologic deterioration, Dystonia, Dysp... OMIM:261630
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis ORPHA:31709
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia, Intracranial hemo... ORPHA:820
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss o... OMIM:208920
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia OMIM:611031
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Bruxism, Long ... OMIM:618004
Congenital Myopathy 9A
Short stature, Tongue fasciculations, Akinesia OMIM:618822
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Chorea, Rigidity, Parkins... ORPHA:98759
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,... OMIM:619317
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Long eyebrows, Bradycardia, Truncal ataxia, Dystonia, Growth delay, Inten... OMIM:614407
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ga... OMIM:617225
Hsd10 Disease
Spastic paraparesis, Postnatal growth retardation, Myoclonus, Short attention span, Tremor, Rigid... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Epicanthus, Bradycardia, Dysphagia OMIM:616276
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment,... OMIM:615768
African Trypanosomiasis
Difficulty walking, Hemiparesis, Arrhythmia, Delirium, Choreoathetosis, Involuntary movements, So... ORPHA:3385
Ataxia-Telangiectasia-Like Disorder
Chorea, Gait ataxia, Myoclonus, Dysmetria, Intention tremor, Oculomotor apraxia, Ataxia, Short st... ORPHA:251347
Combined Oxidative Phosphorylation Deficiency 45
Epicanthus, Cardiac arrest, Tremor, Ataxia OMIM:618951
Oculopharyngeal Muscular Dystrophy 1
Dysphagia, Ptosis, Gait disturbance, Progressive ptosis OMIM:164300
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Generalized dystonia, Congestive heart failure, Inability to walk, Hypertrophic cardi... ORPHA:70472
Striatal Degeneration, Autosomal Dominant 2
Mental deterioration, Chorea, Parkinsonism OMIM:616922
Friedreich Ataxia
Spasticity, Falls, Cardiomyopathy, Inability to walk, Chorea, Limb ataxia, Gait ataxia, Gait imba... ORPHA:95
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Intrauterine growth retardation, Dysmetria, Hypogonadotropic hypogonadism, A... ORPHA:48431
Brain-Lung-Thyroid Syndrome
Incoordination, Abnormal eating behavior, Ataxia, Hypoparathyroidism, Choreoathetosis, Involuntar... ORPHA:209905
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Hypokinesia, Irritability, Tetraplegia OMIM:300816
Choreoathetosis, Familial Inverted
Rigidity, Gait disturbance, Progressive choreoathetosis, Abnormal pyramidal sign, Dementia OMIM:118750
Pontocerebellar Hypoplasia, Type 2D
Chorea, Appendicular spasticity, Irritability, Clonus, Spastic tetraplegia OMIM:613811
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Epican... OMIM:618218
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Autosomal Spastic Paraplegia Type 58
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat... ORPHA:397946
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... OMIM:309548
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Ptosis, Hyperactivity, Hypertonia, Ataxia, Short stature, Dystonia, Athe... ORPHA:52503
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Ptosis OMIM:616304
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Confusion, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski... OMIM:606777
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity, Del... OMIM:618090
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... ORPHA:314632
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Loss of ambulation... OMIM:617282
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Tremor, Dysmetria, Oppositional defiant disorder, Impaired tande... OMIM:619028
Developmental And Epileptic Encephalopathy 17
Inability to walk, Dystonia, Chorea, Athetosis OMIM:615473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Bilateral ptosis, Difficulty walking, Positive Romberg sign, Dysmetria, Right b... OMIM:616479
Fraxe Intellectual Disability
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... ORPHA:100973
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Ptosis, T... OMIM:619862
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Depression, Cardiomyopathy, Paresthesia, Cogwheel rigidity, Action tremor, Distal... ORPHA:254886
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia OMIM:618501
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Hypokinesia, Inability to walk, Limb dystonia, Tr... OMIM:617013
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Dysphagia, Tremor, Ataxia OMIM:618637
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Short statu... OMIM:276880
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Chorea, Babinski sign, Ptosis, Hypertonia, Dystonia, Choreoathetosis OMIM:618451
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... OMIM:604290
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Huntington Disease-Like 3
Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormality of extrapyram... ORPHA:157946
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Metachromatic Leukodystrophy, Adult Form
Spasticity, Memory impairment, Depression, Decerebrate rigidity, Progressive psychomotor deterior... ORPHA:309271
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Memory impairment, Falls, Depression, Neuromuscular dysphagia, Tremor, Rigi... ORPHA:240085
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Depression, Bilateral ptosis, Cognitive impairment, Ataxia, Dementia, Dysphagia ORPHA:329314
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Tip-toe gait, Difficulty walking, Inability to walk, Chorea, Spastic diplegia, Retr... ORPHA:300605
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Bruxism, Myoclonus, Reduced social reciprocity... ORPHA:561854
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Hypokinesia, Dementia, Postural tremor, Gait... OMIM:600116
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Fetal Akinesia Syndrome, X-Linked
Hypokinesia, Telecanthus, Blepharophimosis, Narrow palpebral fissure, Stillbirth OMIM:300073
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Falls, Action myoclonus, Limb ataxia, Myoclonus, Gait distu... OMIM:616230
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Generalized dystonia, Hypertrophic cardiomyopathy, Irritability, Bradycardia, Cardiac... OMIM:618235
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Bilateral ptosis, Gait imbalance, Limb dysm... ORPHA:329336
Alternating Hemiplegia Of Childhood 2
Mental deterioration, Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoath... OMIM:614820
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Short attenti... OMIM:610217
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Chorea, Athetosis, Choreoathetosis OMIM:309541
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Depression, Growth delay, Hostility, Inability to walk, Bruxism, Chorea, Upsl... OMIM:300260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Chorea, Babinski sign, Hypogonadotropic hypogonadism, Cognitive impair... OMIM:604168
Mitochondrial Complex I Deficiency, Nuclear Type 28
Akinesia, Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Choreoathetosis OMIM:618249
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Atypical Rett Syndrome
Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot... ORPHA:3095
Arthrogryposis Multiplex Congenita 5
Hand tremor, Akinesia, Intrauterine growth retardation, Upslanted palpebral fissure, Ptosis, Hype... OMIM:618947
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp... OMIM:234500
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor deterioration, Hyperin... ORPHA:363400
Spinocerebellar Ataxia 47
Spasticity, Chorea, Dysmetria, Ptosis, Ataxia, Short stature OMIM:617931
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Downslanted palpebral fissures, Difficul... ORPHA:442835
Wernicke-Korsakoff Syndrome
Memory impairment, Confusion, Ptosis, Ataxia, Delirium OMIM:277730
Folinic Acid-Responsive Seizures
Broad-based gait, Difficulty walking, Chorea, Irritability, Dystonia, Hypertonia, Ataxia, Spastic... ORPHA:79097
Fetal Akinesia Deformation Sequence
Pterygium, Intrauterine growth retardation, Akinesia, Hypokinesia ORPHA:994
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Hemiplegia, Ventric... ORPHA:1344
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Mepan Syndrome
Hemidystonia, Spasticity, Chorea, Limb dystonia, Axial dystonia, Myoclonus, Craniofacial dystonia... ORPHA:508093
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Gaucher Disease, Perinatal Lethal
Hypokinesia, Akinesia, Intrauterine growth retardation, Neonatal death, Opisthotonus, Progressive... OMIM:608013
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Nasu-Hakola Disease
Spasticity, Memory impairment, Frontal lobe dementia, Chorea, Irritability, Disinhibition, Oculom... ORPHA:2770
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Involuntary movements, Hypokinesia, Irritability ORPHA:238329
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Spinocerebellar Ataxia With Epilepsy
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Ptosis, Progressive neurologic deteriorati... ORPHA:254881
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Sh... ORPHA:225147
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia, Im... ORPHA:276435
Bone Marrow Failure Syndrome 3
Aplastic anemia, Downturned corners of mouth, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Ptosis, Decreased miniature endplate potentials, Dysphagia, Prolonged miniatu... OMIM:616321
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Multiple Pterygium Syndrome, Lethal Type
Epicanthus, Akinesia, Intrauterine growth retardation, Multiple pterygia OMIM:253290
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... OMIM:302500
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra... OMIM:615157
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Hypothyroidism, Hypertonia, Growth delay, Spastic tetraplegia OMIM:619147
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Parkinsonism, Craniof... ORPHA:71517
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Poor fine motor coordination, Memory impairment, Resting tremor, Depression... OMIM:300623
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal ... ORPHA:99750
Ataxia-Telangiectasia-Like Disorder 1
Chorea, Gait ataxia, Dysmetria, Dystonia, Telangiectasia, Lower limb spasticity, Oculomotor aprax... OMIM:604391
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Spastic ataxia, Ptosis, Oculomotor apraxia... OMIM:614487
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Huntington Disease-Like 3
Mental deterioration, Spasticity, Chorea, Abnormality of extrapyramidal motor function, Dystonia,... OMIM:604802
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Ataxia, Dementia ORPHA:716
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Tetraparesis, Emotional lability, Arrhythmia, Abnormal pyramidal sign,... ORPHA:2131
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Tremor, Lethargy, Hyperinsulinemic hypoglyce... ORPHA:276608
Frontotemporal Dementia With Motor Neuron Disease
Depression, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Disinhibi... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 31
Growth delay, Bruxism, Tremor, Self-mutilation, Ptosis, Ataxia, Dystonia, Dysphagia, Choreoathetosis OMIM:619422
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Short stature, Tremor OMIM:312910
Riboflavin Transporter Deficiency
Hypogonadism, Myoclonus, Tremor, Hypertension, Aggressive behavior, Ptosis, Ataxia, Diabetes insi... ORPHA:97229
Alexander Disease
Precocious puberty, Self-injurious behavior, Spasticity, Depression, Hypotension, Chorea, Emotion... ORPHA:58
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Dysphagia, Bradycardia OMIM:620265
Developmental And Epileptic Encephalopathy 27
Dystonia, Chorea, Myoclonus, Spasticity OMIM:616139
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Parkinson Disease 1, Autosomal Dominant
Mental deterioration, Shuffling gait, Depression, Resting tremor, Hypokinesia, Myoclonus, Rigidit... OMIM:168601
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Hand tremor, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Epicanthus, Attention ... ORPHA:589905
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Parest... OMIM:164400
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis OMIM:118800
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Inability to walk, Chorea, Short attention span, Irritability, Hypertonia, Exaggerate... OMIM:617864
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hyperactivity disor... OMIM:617600
Progressive Supranuclear Palsy
Blepharospasm, Memory impairment, Falls, Depression, Emotional lability, Tremor, Rigidity, Dyston... ORPHA:683
Arthrogryposis Multiplex Congenita 6
Akinesia, Neonatal death OMIM:619334
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyr... OMIM:617145
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Bilateral ptosis, Difficulty walking, Inability to walk, Delayed menarche, Tre... ORPHA:330050
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait di... ORPHA:363710
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Dysphagia, Choreoathetosis OMIM:271930
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Ptosis, Abnormal pyramidal sign, Ataxia, Short... OMIM:614831
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Dyskeratosis Congenita, Autosomal Dominant 1
Carious teeth, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Lymphopenia,... OMIM:127550
Pontocerebellar Hypoplasia, Type 8
Spasticity, Involuntary movements, Long eyelashes, Chorea, Thick eyebrow, Gait ataxia, Reduced so... OMIM:614961
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Sensory ataxia, Hypokinesia OMIM:618184
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Irritability, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Prog... OMIM:261640
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Cerebral hemorrhage, Emotional lability, Tremor, Gait disturban... ORPHA:542310
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Delirium ORPHA:208441
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Adrenal insufficiency, Intrauterine growth retardation, Ptosis, Dystonia, Spastic tet... OMIM:618238
Lethal Congenital Contracture Syndrome 2
Akinesia, Dilated cardiomyopathy OMIM:607598
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dystonia... OMIM:618088
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Lethargy, Elevated circulating thyroid-stimulating hormon... ORPHA:95717
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Dysmetria, Mildly reduced left ventricular ejection fraction, Arrhythmia, Ptosi... OMIM:618098
4H Leukodystrophy
Mental deterioration, Decreased response to growth hormone stimulation test, Abnormality of thyro... ORPHA:289494
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Cognitive imp... ORPHA:98763
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Pterygium, Intrauterine growth retardation, Akinesia OMIM:225790
Ataxia With Vitamin E Deficiency
Mental deterioration, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Arr... ORPHA:96
Obesity Due To Sim1 Deficiency
Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Hyperinsuline... ORPHA:369873
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, C... ORPHA:2590
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ptosis, Ataxia, Dystonia... OMIM:618049
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Spasticity, Bruxism, Chorea, Ptosis OMIM:620149
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoclonus, Babinski sign, Ptosis... OMIM:252011
Tetanus
Bradycardia, Tremor, Rigidity, Hypertension, Opisthotonus, Spasticity of pharyngeal muscles, Hype... ORPHA:3299
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Impaired pain sensation, Distal sensory impairment, Steppage gait, Ptosis, Gait disturbance, Freq... OMIM:607684
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Spasticity, Choreoathetosis, Irritability OMIM:614249
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Alpha-Thalassemia
Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Malar prominence, He... ORPHA:846
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Difficulty walking, Emotional lability, Impaired tacti... ORPHA:206443
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depression, Growth delay, Increased... ORPHA:90674
Myasthenic Syndrome, Congenital, 13
Ptosis, Fatigable weakness OMIM:614750
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Spasticity, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Hemiplegia/hemiparesis, Lethargy, Dystonia, Growth delay, Choreoathetosis ORPHA:289916
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Choreoacanthocytosis
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... ORPHA:2388
Caribbean Parkinsonism
Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Par... ORPHA:97355
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Long philtrum, Micrognathia, Solitary median maxillary central... ORPHA:261250
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Hypokinesia, Arrhythmia, Cognitive impairment, Ataxia, Bradykinesia, Dysphagia, D... ORPHA:254892
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Conjunctival telangiectasia, Progressive g... OMIM:606002
Hsd10 Mitochondrial Disease
Spasticity, Hypertrophic cardiomyopathy, Agitation, Aggressive behavior, Progressive neurologic d... OMIM:300438
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Dpagt1-Cdg
Head-banging, Inability to walk, Akinesia, Stereotypical body rocking, Tremor, Aggressive behavio... ORPHA:86309
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor... ORPHA:137898
Birk-Aharoni Syndrome
Inability to walk, Chorea, Thick eyebrow, Spastic tetraplegia OMIM:620071
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... ORPHA:90117
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Syncope, Cognitive impairment, A... OMIM:603472
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Depression, Cardiomyopathy, Bilateral ptosis, Limb ataxia, Gait ataxia, Positive Romberg sign, Em... OMIM:258450
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Brown-Vialetto-Van Laere Syndrome 2
Tongue fasciculations, Hypokinesia, Clumsiness, Aggressive behavior, Ataxia, Dysphagia OMIM:614707
Developmental And Epileptic Encephalopathy 40
Spasticity, Intrauterine growth retardation, Myoclonus, Lethargy, Spastic tetraparesis, Choreoath... OMIM:617065
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Intention tremor, Emotional lability, Babinski sign, Dysdiadochokinesis, Choreoathet... ORPHA:98890
Poliomyelitis
Hypovolemic shock, Hypotension, Fasciculations, Inability to walk, Confusion, Paresthesia, Fatiga... ORPHA:2912
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Abnormality of adre... ORPHA:43
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short attention span, Ptosis, Decr... OMIM:608747
Neuroblastoma
Elevated circulating catecholamine level, Myoclonus, Antalgic gait, Irritability, Horner syndrome... ORPHA:635
Spinocerebellar Ataxia 28
Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski sign, Parkinsonism, P... OMIM:610246
Ritscher-Schinzel Syndrome 4
Downslanted palpebral fissures, Chorea, Aggressive behavior, Dysphagia, Ataxia, Short stature, At... OMIM:619435
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Distal sensory impairment, Tremor, Babinski sign, Steppage gait... OMIM:609260
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Broad-based gait, Progressive truncal ataxia, Difficulty walking, Dysmetria, Progressive gait ata... ORPHA:363429
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Subdural hemorrhage, Chorea, Limb dystonia, Retinal hemorrhage, Tremor, ... ORPHA:25
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Downslanted palpebral fissures, Inability to walk, Bilateral ptosis, Ataxia OMIM:619701
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dilated cardiomyopathy, Generalized dystonia, Chorea, Gait ataxia, Myoclonus, Irritability, Aggre... OMIM:618321
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Myoclonus, Ataxia, Dementia, Unsteady gait, Frequent falls, Choreoathetosis OMIM:301020
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of lau... OMIM:618718
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Inability to walk, Ptosis, Short stature, Spastic tetraparesis, Growth delay ORPHA:438178
Ptosis-Vocal Cord Paralysis Syndrome
Severe short stature, Hemiplegia, Ptosis ORPHA:2997
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy, Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls OMIM:619647
Metachromatic Leukodystrophy
Mental deterioration, Chorea, Emotional lability, Babinski sign, Gait disturbance, Tetraplegia, A... OMIM:250100
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia OMIM:617916
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Spastic paraparesis, Choreoathetosis, Ataxia ORPHA:67047
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Irritability, Lethargy, Limb hypertonia, Progressive ne... OMIM:233910
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Dystonia, Motor stereotypy, Abnormal pyramidal sign, H... OMIM:617435
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Gait ataxia, Cogwheel rigidity, Myoclonus, Rigidity, Loss of ambulation... ORPHA:225154
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Male hypogonadism, Resting tremor, Bruxi... OMIM:300055
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Downslanted palpebral fissures, Inability to walk, Thin eyebrow, Chorea, U... OMIM:617804
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Abnormality of extrapyramidal motor function, Pulmonary arterial hypertensi... OMIM:616299
Paroxysmal Extreme Pain Disorder
Tachycardia, Impaired pain sensation, Bradycardia OMIM:167400
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Ptosis, Abnormal pyramidal sign, Ataxia OMIM:612016
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Fatigable weakness, Ptosis, Gait disturbance, Periodic paralysis OMIM:614198
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Cerebral palsy, Downslanted palpebral fissures, I... OMIM:615834
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia OMIM:104290
Chorea, Benign Familial
Chorea OMIM:215450
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short palpebral fissure, Spasticity, Cerebral palsy, Bilateral ptosis, Ups... ORPHA:352490
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
11Q22.2Q22.3 Microdeletion Syndrome
Thick eyebrow, Short attention span, Epicanthus, Attention deficit hyperactivity disorder, Ptosis... ORPHA:444002
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Mental deterioration, Depression, Generalized dystonia, Ina... OMIM:312080
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ata... OMIM:109150
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Classic Galactosemia
Mental deterioration, Depression, Incoordination, Speech apraxia, Postural tremor, Gait imbalance... ORPHA:79239
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Spasticity, Chorea, Epicanthus, Opisthotonus, Ptosis, Babinski sign, Ble... OMIM:618792
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Truncal ataxia, Chorea, Waddling gait ORPHA:369840
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Intrauterine growth retardation, Leg dystonia, Ankle clonus,... ORPHA:565624
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Rigidity, Aggressive behavior, Hyperactivity, Hyperto... OMIM:620023
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Bruxism, Myoclonus, Stereotypical hand wringing, Hyperkinetic movements, Dysto... OMIM:618497
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Frontal lobe dementia, Babinski sign, Parkinsonism, Ptosis, Frontotemporal dementia, Cognitive im... OMIM:615911
Insulinoma
Transient global amnesia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pit... ORPHA:97279
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Ptosis, Limb hypertonia, Cogni... ORPHA:70594
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Dysmetria, Ptosis, Oculomotor apraxia, Ataxia, Dyston... ORPHA:313772
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, Parkinsonism, ... ORPHA:521406
Rheumatic Fever
Epistaxis, Fasciculations, Chorea, Arrhythmia, Gait disturbance, Anorexia, Myocarditis, Hemiballi... ORPHA:3099
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Memory impairment, Depression, Gait ataxia, Intention tremor, Dysmetria, Rigidity, H... ORPHA:93256
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Dystonia, Hypertonia, Bradycardia OMIM:614654
X-Linked Charcot-Marie-Tooth Disease Type 3