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Gene: Sptbn2 MGI:1313261

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Gene Summary

Name:
spectrin beta, non-erythrocytic 2
Synonyms:
Spnb3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 5.05×10-05
decreased hemoglobin content Sptbn2tm1b(EUCOMM)Hmgu HOM   Early adult 9.53×10-05
increased circulating creatine kinase level Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 4.42×10-06
increased circulating phosphate level Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 8.23×10-05
hyperactivity Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 6.28×10-05

Download data as:  TSV  XLS

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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
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)
Eye  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 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)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  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)
Adrenal gland N/A heterozygote 0.0% (0 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Large intestine 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)
Ovary 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)
Skeletal muscle 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)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus 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 0.69% (4 of 580)
aorta 0.17% (1 of 581)
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
esophagus 1.75% (7 of 400)
eye 0.0%
gall bladder 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 576)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
parathyroid gland 0.18% (1 of 564)
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 581)
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
uterus 0.35% (2 of 571)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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Human diseases caused by Sptbn2 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 Sptbn2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:615386
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Impaired vibratory sensation, Intention tremor, Dysdiadochokinesis, Gait ... OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403

The table below shows human diseases predicted to be associated to Sptbn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 4
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... ORPHA:98765
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy OMIM:615945
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia DECIPHER:4
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia DECIPHER:54
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... OMIM:617018
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Cerebellar Ataxia And Albinism
Ataxia, Head tremor, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Cerebellar atrophy ORPHA:423296
Cerebellar Ataxia, Cayman Type
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Trun... ORPHA:94122
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Megalencephaly With Dysmyelination
EEG with photoparoxysmal response, Ataxia, Spasticity OMIM:249240
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, EEG abnormality, Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia OMIM:618174
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy OMIM:605388
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy OMIM:615268
Autosomal Spastic Paraplegia Type 30
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... OMIM:619742
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity OMIM:619228
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Abnormal cerebellum morphology, Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral ton... OMIM:162350
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:2672
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor, Cerebellar atrophy, Seizure OMIM:616187
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, EEG abnormality, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigm... OMIM:600143
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... OMIM:610245
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Ab... ORPHA:101007
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... OMIM:618876
Spinocerebellar Ataxia 38
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... OMIM:615768
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia Type 12
Ataxia, Abnormal cerebellum morphology, Action tremor, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Action tremor, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... ORPHA:314978
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... ORPHA:308
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocere... OMIM:616053
Spinocerebellar Ataxia 31
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:117210
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... ORPHA:423275
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... OMIM:615362
Myasthenic Syndrome, Congenital, 18
Ataxia, Difficulty walking, Fatigable weakness OMIM:616330
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive 15
Ataxia, Gait ataxia, Unsteady gait, Cerebellar atrophy, Seizure OMIM:615705
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... ORPHA:95434
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:363432
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Seizure OMIM:614322
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Hypocalcemia, Hyperphosphatemia, Short metacarpal OMIM:603233
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy OMIM:607458
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, Seizure OMIM:617643
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Bilateral toni... OMIM:616230
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Generalized myoclonic seizure, Cerebellar atrophy, Seizure OMIM:614706
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy OMIM:302500
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Atrophy of the dentate nucleus OMIM:125370
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Cerebral atrophy, Myoclonus, Increased extrane... OMIM:204500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... OMIM:270500
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... OMIM:601068
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... OMIM:210000
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... OMIM:613608
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Gait ataxia OMIM:601238
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... OMIM:613728
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Cerebellar atrophy, Clumsiness OMIM:610003
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance OMIM:300660
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy OMIM:618090
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Somat... ORPHA:98763
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Episodic Ataxia, Type 9
Status epilepticus, Clonic seizure, Tonic seizure, Cerebellar edema, Bilateral tonic-clonic seizu... OMIM:618924
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Progressive cerebellar ataxia, Action tremor, Dysmetria, Axial dystoni... OMIM:604326
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski ... ORPHA:251282
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Dysdiadochokinesis, Myo... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Unsteady ... OMIM:213200
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Gait disturbance,... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait OMIM:618387
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:608029
Autosomal Spastic Paraplegia Type 72
Spastic gait, Impaired vibration sensation at ankles, Rigidity, Postural tremor ORPHA:401849
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia, Cerebral degeneration OMIM:260970
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... ORPHA:284324
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:101075
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Atonic seizure, Action tremor, Extrapyramidal muscular rigidity, Dysmetria, Ba... ORPHA:93952
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... OMIM:616981
Spinocerebellar Ataxia 46
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy OMIM:617770
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Flared metaphysis, Genu ... OMIM:619073
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Spasticity, Seizure ORPHA:356996
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... OMIM:616127
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Camos Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spast... ORPHA:83472
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Rigidity, Tremor, Chiari type I malformation, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... OMIM:609270
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity, Seizure OMIM:240900
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Brain atrophy, Dysmetria, Cerebral atrophy, EEG wi... ORPHA:79263
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... OMIM:616719
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... OMIM:619028
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spastic Ataxia-Corneal Dystrophy Syndrome
Ataxia, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Spastic a... ORPHA:2572
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... OMIM:600363
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation ORPHA:101078
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, EEG with spike-wave complexes, Myoclonus, Tremor, Difficulty walking OMIM:614018
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... OMIM:610357
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Inability to walk, Dysmetria, Myoclonic seizure, Cerebellar hypoplasia, Tremor, B... OMIM:617810
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tongue fasciculations, Gait disturbance, Tremor, Impaired distal vibration sen... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... OMIM:614831
Cln5 Disease
EEG with focal spikes, Ataxia, Atrophy/Degeneration affecting the central nervous system, Cerebra... ORPHA:228360
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... ORPHA:1175
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia OMIM:617829
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia 29
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... OMIM:117360
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... ORPHA:453521
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... ORPHA:352675
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... ORPHA:512260
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... OMIM:619862
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum OMIM:609161
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait OMIM:619405
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait ORPHA:284271
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Aplasia of the infe... OMIM:610185
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... ORPHA:521406
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sensation at ankles, Ataxia, ... OMIM:616795
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Loss of ambulation, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy OMIM:617916
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Bilateral tonic-clonic ... OMIM:618093
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Roussy-Lévy Syndrome
Clumsiness, Limb ataxia, Impaired vibratory sensation, Postural tremor, Decreased motor nerve con... ORPHA:3115
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... ORPHA:352641
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... OMIM:617282
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Cerebellar hypoplasia, Spast... ORPHA:314603
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, EEG abnormality, Gait ataxia OMIM:617831
Urocanic Aciduria
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Truncal ataxia, Chor... OMIM:618587
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... OMIM:601098
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Spinocerebellar Ataxia Type 26
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Chronic Inflammatory Demyelinating Polyneuropathy
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... ORPHA:2932
Glut1 Deficiency Syndrome 2
Ataxia, EEG abnormality, Cerebral atrophy, Tremor, Choreoathetosis, Dystonia OMIM:612126
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Gait imbalance, Abnormal cerebellum morphology, Bilateral tonic-clonic s... ORPHA:101070
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... OMIM:618917
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia OMIM:615217
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Falls, Paroxysmal dyskinesi... OMIM:619150
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations OMIM:183050
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal motor evoked pote... ORPHA:98
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Glutathionuria
Tremor OMIM:231950
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Ataxia-Oculomotor Apraxia 4
Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia OMIM:616267
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Olivopontocerebellar atrophy, Chorea, Tr... OMIM:164500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Dysmetria, Axonal degeneration, Hand tremor, Tip-toe gait, Decreased motor nerve con... OMIM:302800
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... OMIM:614487
Spastic Paraplegia 10, Autosomal Dominant
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:604187
Spinocerebellar Ataxia 49
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... OMIM:619806
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... OMIM:618317
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Ataxia, Inability to walk, Cerebellar hypoplasia, Unsteady gait, Seizure, Oculomotor apraxia OMIM:618273
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired vibration sensation in the lower limbs, Abnormal lower-limb motor evoked po... ORPHA:100999
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Ataxia, Babinski sign, Difficulty walking, Spasticity, Generalize... OMIM:618242
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... OMIM:600223
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, EEG abnormality, Athetosis, Tremor OMIM:617106
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy OMIM:616494
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... ORPHA:33445
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Inability to walk, Limb fasciculations, Distal se... ORPHA:90117
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:617691
Progressive Myoclonic Epilepsy Type 3
Progressive cerebellar ataxia, Myoclonus, Limb myoclonus, Febrile seizure (within the age range o... ORPHA:263516
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... ORPHA:65684
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal sensory impairment, Cerebellar atrophy, Seizure, Steppage gait OMIM:607250
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Interictal e... OMIM:254800
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction... ORPHA:99014
Dravet Syndrome
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... OMIM:607208
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:615386
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... OMIM:616204
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Pseudohypoparathyroidism, Type Ia
Short toe, Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacar... OMIM:103580
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia OMIM:618501
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia OMIM:615159
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Impaired vibratory sensation, Intention tremor, Dysdiadochokinesis, Gait ... OMIM:600224
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... ORPHA:71517
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Action tremor, EEG abnormality, Poor coordination, EEG with polyspike w... OMIM:617665
Spinocerebellar Ataxia, Autosomal Recessive 8
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy OMIM:610743
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... ORPHA:1170
Null Syndrome
Ataxia, Abnormal cerebellum morphology, Inability to walk, Decreased nerve conduction velocity, P... ORPHA:280234
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination OMIM:609306
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... OMIM:607136
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... ORPHA:98756
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity, Seizure ORPHA:436141
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Small hand, Micrognathia, Hyperphosphatemia, Short foot, Short palm, Hypocalcemic s... OMIM:241410
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Spinocerebellar Ataxia Type 29
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... ORPHA:208513
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Spastic paraparesis, Decreased motor nerve conduction velocity, Gait disturban... ORPHA:101077
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... ORPHA:94124
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Hypocalcemic tetany, Hyperphosphatemia, Short metatarsal, Short metacarpal OMIM:612462
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... ORPHA:206594
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Ataxia, Decreased body weight, Athetosis, Bilateral tonic-clonic seizure, Cere... OMIM:614559
Dystonia With Ringbinden
Gait disturbance, Dystonia, Chorea OMIM:224550
Spinocerebellar ataxia 27
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Gait ataxia, Cere... OMIM:609307
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... ORPHA:352403
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... ORPHA:100988
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Babin... OMIM:270685
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia OMIM:617994
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... ORPHA:210571
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... OMIM:159550
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia OMIM:612438
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Infantile spasms, Hypoplasia of the pons, Cerebellar hypoplasia, Myoclonic seizure, B... OMIM:619301
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... ORPHA:139485
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, Blepharospasm, General... ORPHA:352582
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Episodic Ataxia Type 6
Hemiplegia, Ataxia, Cerebellar atrophy, Seizure, Slurred speech ORPHA:209967
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Abnormal cerebellum morphology, Clumsiness, Progressive cerebellar ataxia, Cerebral a... ORPHA:137898
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Micrognathia, Hyperactivity, Clinodactyly OMIM:608747
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... ORPHA:280219
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... OMIM:612020
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Developmental And Epileptic Encephalopathy 98
Clonic seizure, Bilateral tonic-clonic seizure with focal onset, Refractory status epilepticus, B... OMIM:619605
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... OMIM:619738
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Generalized myoclonic seizure, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokine... ORPHA:313772
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, Generalized tonic sei... OMIM:607682
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Abnormal cerebellum morphology, Dysmetria, Tip-toe gait, Babin... OMIM:609195
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb p... OMIM:180800
Nephronophthisis 15
Obesity, Cerebellar vermis hypoplasia, Seizure OMIM:614845
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hypertonia, Ataxia, Myoclonus, Spasticity, Cerebellar atrophy, Seizure OMIM:618426
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... ORPHA:98772
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Truncal ataxia, Chorea, Distal sens... OMIM:208920
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
EEG abnormality, Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Spast... ORPHA:529665
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination OMIM:614947
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Atypical Rett Syndrome
Loss of ambulation, EEG abnormality, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereo... ORPHA:3095
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Progressive cerebellar ataxia, B... ORPHA:98755
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Hypertonia, Focal impaired awareness seizure, Generalize... ORPHA:306
Kohlschutter-Tonz Syndrome
Ataxia, Cerebral atrophy, Cerebellar hypoplasia, Spasticity, Hypsarrhythmia OMIM:226750
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... OMIM:606183
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia OMIM:614229
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Decreased body weight, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticit... OMIM:617672
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... OMIM:183090
Narcolepsy Type 1
Obesity, Cataplexy, Slurred speech ORPHA:2073
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper l... OMIM:614409
Spinocerebellar Ataxia 34
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... OMIM:133190
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... OMIM:615871
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Episodic Ataxia, Type 5
Ataxia, EEG with spike-wave complexes, Myoclonus, Truncal ataxia, EEG with generalized spikes, Ep... OMIM:613855
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Hypocalcemic tetany, Hyperphosphatemia, Cortical subperiostea... ORPHA:94089
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Cerebellar atrophy, Postural tremor OMIM:254900
Peroxisome Biogenesis Disorder 5B
Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait, Oculomotor apraxia OMIM:614867
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Neurodegene... OMIM:606159
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormality of extrapyramidal motor function... OMIM:300894
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... OMIM:604484
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar atrophy, I... OMIM:608768
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, Clumsiness, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:1947
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Anemia, Abnormality of the medullary cavity of the long bones, Hyperphosphatemia, T... OMIM:127000
Joubert Syndrome 32
Abnormal cerebellum morphology, Ataxia, Tall stature, Large for gestational age, Oculomotor apraxia OMIM:617757
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Acroparesthesia, Upper motor ... ORPHA:206443
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Spinocerebellar Ataxia Type 10
Gait imbalance, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, B... ORPHA:98761
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ataxia, Cerebellar vermis atrophy, Multifocal seizures, Dysmetria, Intention tremor, Babinski sig... OMIM:618170
Autoimmune Hypoparathyroidism