Gene Summary

Name:
a disintegrin and metallopeptidase domain 23
Synonyms:
MDC3

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 Adam23tm1b(EUCOMM)Hmgu HET Early adult 4.13×10-10
preweaning lethality, incomplete penetrance Adam23tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

32 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Adam23 mutations

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

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

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

The table below shows human diseases predicted to be associated to Adam23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Dystonia 3, Torsion, X-Linked
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Dystonia 27
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... ORPHA:464440
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Taurodontism
Taurodontia OMIM:272700
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Hypertonia, Intrauterine growth retardation OMIM:614023
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... ORPHA:98807
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia, Involuntary movements OMIM:620245
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Dystonia 23
Writer's cramp, Torticollis, Axial dystonia, Gait disturbance, Head tremor, Limb dystonia, Myoclonus OMIM:614860
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia... ORPHA:251282
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Torticollis, Myoclonus OMIM:159900
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor ORPHA:401849
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Unsteady gait, Parkinsonism, Abnormal pyramidal sign, P... ORPHA:210571
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen... ORPHA:98763
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor OMIM:158580
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor OMIM:615048
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Steatocystoma Multiplex
Natal tooth OMIM:184500
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston... ORPHA:101109
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria OMIM:613728
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Frequent fall... ORPHA:216873
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation OMIM:620221
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... ORPHA:352641
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Tremor, Ataxia, Gait disturbance ORPHA:101078
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Chorea, Progressive extrapyramidal muscular rig... ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Gait disturbance, Involuntary movements, Limb dy... OMIM:612067
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Intention tremor, ... ORPHA:352403
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Gait ataxia OMIM:620174
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Unsteady gai... OMIM:616795
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria OMIM:600223
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Hypodontia, Oral mucosal blisters OMIM:226650
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F... ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Spinocerebellar Ataxia Type 17
Torticollis, Writer's cramp, Chorea, Spasticity, Blepharospasm, Gait disturbance, Involuntary mov... ORPHA:98759
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Proximal Myopathy With Extrapyramidal Signs
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... ORPHA:401768
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ... OMIM:210000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Impai... OMIM:208920
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Spasticity, Tremor OMIM:609260
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro... ORPHA:137898
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi... ORPHA:96
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm... ORPHA:254881
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Ataxia OMIM:300983
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Pyle Disease
Delayed eruption of teeth, Mandibular prognathia, Persistence of primary teeth, Hypoplastic front... OMIM:265900
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Phenylketonuria
Tremor, Ataxia, Lower limb spasticity ORPHA:716
Neuroectodermal Melanolysosomal Disease
Hypertonia, Spasticity, Tremor, Rigidity, Ataxia ORPHA:33445
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79405
Hsd10 Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Odontomicronychial Dysplasia
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... ORPHA:1811
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Carious teeth OMIM:161000
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Hypermanganesemia With Dystonia 2
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Growth delay, Rigidity,... ORPHA:70594
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Ataxia, Athetosis OMIM:617106
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v... OMIM:300623
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction OMIM:603472
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:102
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Eem Syndrome
Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t... ORPHA:1897
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Gai... ORPHA:3095
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Distal sensory impairment, Inability to walk, Tremor, Somatic sensory dysfun... ORPHA:90117
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Tremor, Ataxia, Myoclonus OMIM:612016
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Difficulty walking, Lower limb spasticity, Impaired tactile sensation, Tetrapleg... ORPHA:206443
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural tremor, Dysmetria OMIM:607694
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone ORPHA:3145
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Unsteady gait, Ataxia, Dysmetria OMIM:614867
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Axial... ORPHA:227510
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Frequent falls, Myoclonus OMIM:159950
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to walk, Writer's cramp... OMIM:128100
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Gait ataxia, Intenti... OMIM:616505
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia... ORPHA:240071
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Tremor, Distal sensory impairment, Gait disturbance OMIM:118300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Loss of ambulation, Dystonia OMIM:615010
Saccharopinuria
Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia ORPHA:3124
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Spasticity, Dysdiadoch... ORPHA:247234
Cystathioninuria
Tremor ORPHA:212
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:619092
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria ORPHA:529665
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Head tremor, Dystonia, Ataxia, Abnormal pyrami... ORPHA:64753
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal sensory impairment OMIM:607734
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Chorea, Exaggerated startle response, Short stature, Dystonia, Abno... ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, Myoclonus, Abnor... ORPHA:363400
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Parkinsonism ORPHA:3077
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Pelizaeus-Merzbacher Disease
Generalized dystonia, Inability to walk, Writer's cramp, Broad-based gait, Tremor, Intention trem... OMIM:312080
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Rigidity, Abnorma... ORPHA:442835
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... OMIM:619574
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Subacute Inflammatory Demyelinating Polyneuropathy
Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Freq... ORPHA:206594
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Intrauterine growth retardation, Tremor, Short stature, Growth delay OMIM:617744
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati... OMIM:606002
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Apraxia, Tremor, ... ORPHA:52368
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... ORPHA:765
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrapyramidal motor ... OMIM:614298
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168600
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Gait ataxia, Action tremor, Head titubation, A... ORPHA:99027
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at... ORPHA:48818
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul... OMIM:168601
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Hypertonia, Tremor, Opisthotonus OMIM:250800
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Spastic tetraplegia, Dysmetria OMIM:617710
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Intention tre... OMIM:105210
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Amish Nemaline Myopathy
Tremor ORPHA:98902
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria OMIM:618527
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Persistence of primary teeth, Carious teeth, Micrognathia,... OMIM:265800
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg... OMIM:204690
Tay-Sachs Disease
Inability to walk, Ankle clonus, Fasciculations, Incoordination, Decerebrate rigidity, Tremor, Pr... ORPHA:845
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Hyperkinetic movements, Inability to walk, Chorea, Truncal ataxia, Tremor, At... OMIM:615356
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency