banner
Genes Phenotypes Help, News, Blog

Gene: Sptbn2 MGI:1313261

Log in to follow

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 4.08×10-06
increased circulating creatine kinase level Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 4.33×10-06
decreased hemoglobin content Sptbn2tm1b(EUCOMM)Hmgu HOM   Early adult 9.53×10-05
increased circulating phosphate level Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 8.23×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Adult LacZ

LacZ Images Wholemount

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

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
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 14
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... OMIM:615386
Spinocerebellar Ataxia 5
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... ORPHA:352403

The table below shows human diseases predicted to be associated to Sptbn2 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, Slurred speech, Tremor, Ataxia OMIM:613227
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spinocerebellar Ataxia Type 4
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... ORPHA:98765
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Angelman syndrome (Type 1)
Truncal ataxia, EEG abnormality DECIPHER:4
Angelman syndrome (Type 2)
Truncal ataxia, EEG abnormality DECIPHER:54
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp... OMIM:617018
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia 41
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:616410
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Megalencephaly With Dysmyelination
Spasticity, EEG with photoparoxysmal response, Ataxia OMIM:249240
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Broad-based gait, Intention tremor OMIM:601238
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:615268
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Cerebellar Ataxia, Cayman Type
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy OMIM:616187
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Cerebellar hypoplasia, Spastic tetraplegia, EEG abnormality, Ataxia OMIM:618174
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyr... OMIM:162350
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... OMIM:614561
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal proprioception, Spasticity, Impaired distal vibration sensation, Seizure, Spastic... OMIM:619742
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Atrophy/Degenerat... OMIM:615957
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Abnormality of somatosensory evoked potentials, Dysdiadoc... ORPHA:101007
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy OMIM:616291
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t... ORPHA:314978
Ceroid Lipofuscinosis, Neuronal, 8
EEG abnormality, Myoclonus, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atro... OMIM:600143
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Cerebellar atrophy, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem... OMIM:615768
Progressive Myoclonic Epilepsy Type 1
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spast... OMIM:614322
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal pha... ORPHA:79445
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Short metacarpal, Brachydactyly OMIM:603233
Spinocerebellar Ataxia Type 5
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination ORPHA:98766
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Neurona... OMIM:610245
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... ORPHA:98762
Epilepsy, Progressive Myoclonic, 11
Rigidity, Myoclonus, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, Intention... OMIM:618876
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Limb ataxia, Spastic gait, Gait ataxia OMIM:617133
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Pontocerebella... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive 25
Cerebellar hypoplasia, Truncal ataxia, Ataxia, Babinski sign, Dysmetria OMIM:617584
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... ORPHA:95434
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Progressive gait ataxia, Clumsiness, Babinski sign, Intent... ORPHA:284332
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Generalized myoclonic seizure, Seizure, Ataxia OMIM:614706
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy OMIM:607458
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Truncal ataxia, Generalized m... OMIM:611726
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... OMIM:613608
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Dysdiadochokinesis, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ... OMIM:256731
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... OMIM:601068
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Ataxia OMIM:125370
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Cerebellar atrophy, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Seizure, Ataxia, Cerebellar atrophy, Unsteady gait OMIM:615705
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... OMIM:616230
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady... OMIM:302500
Dystonia With Cerebellar Atrophy
Torticollis, Craniofacial dystonia, Cerebellar atrophy, Progressive cerebellar ataxia, Dystonia OMIM:611694
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Dystonia 23
Cerebral cortical atrophy, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbanc... OMIM:614860
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Increased extraneuronal autofluorescent lipopigment, Ataxia, Abnormal nervous system e... OMIM:204500
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at... ORPHA:98763
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dyston... OMIM:604326
Migraine, Familial Hemiplegic, 1
Hemiparesis, Hemiplegia, Ataxia, Tremor, Cerebellar atrophy OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Clumsiness, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Impaired vibration sensation at ankles, Spastic gait ORPHA:401849
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Vitamin D-Dependent Rickets, Type 3
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Hypocal... OMIM:619073
Spinocerebellar Ataxia Type 35
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... ORPHA:276193
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormalit... ORPHA:79262
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Intention tremor, Myoclonus ORPHA:2589
Dystonia, Dopa-Responsive
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... OMIM:128230
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... OMIM:615362
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... OMIM:618090
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intention tremor OMIM:608029
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... OMIM:615127
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas... OMIM:213200
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia ORPHA:22
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Seizure, Large for gestational age, Truncal obesity OMIM:240900
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment OMIM:618387
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Hyperkinetic movements, Rigidity, Myoclonus, Choreoathetosis, Gait disturbanc... OMIM:616981
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... ORPHA:251282
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr... OMIM:619028
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Neuronal loss in central nervous system, ... OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 14
Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Cerebellar atrophy, Unsteady gait, Intent... OMIM:615386
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Cerebral atrophy, Dystonia, Bradykinesia OMIM:600116
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Babinski sign, Aplasia/H... ORPHA:401820
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... ORPHA:101112
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... ORPHA:276435
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... OMIM:600363
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Poor fine motor coordination, EEG with generalized slow activity grade 4, Spasticity, Cer... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, ... OMIM:616127
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, EEG with spike-wave complexes OMIM:614018
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor ORPHA:101075
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Rigidity, Ataxia, Tremor, Chiari type I malformation, Dystonia, Bradykinesia OMIM:617836
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Rigidity, Gait disturbance, Slurred speech, Degeneration of the striatum, Bra... OMIM:609161
Spastic Paraplegia 78, Autosomal Recessive
Gait ataxia, Abnormal pyramidal sign, Cerebral cortical atrophy, Falls, Spastic tetraplegia, Rest... OMIM:617225
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Subcortical cerebral atrophy, Shuffling gait, Resting tremor, Parkinso... ORPHA:306692
Myoclonic Epilepsy, Familial Infantile
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... OMIM:605021
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater... OMIM:618141
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity ORPHA:101078
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Dysdiado... OMIM:213600
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Bilateral tonic-clonic seizure, Aton... ORPHA:93952
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Spastic Paraplegia 30, Autosomal Dominant
Ankle clonus, Spastic gait, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Lower limb spas... OMIM:610357
Spastic Paraplegia, Ataxia, And Mental Retardation
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Ataxia, Spastic para... OMIM:607565
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... OMIM:607876
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia, Febrile seizure (within the age range of 3 mon... OMIM:618412
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Dysdiadochokinesis, Progressive gait ataxia, Clumsiness, Spastic dysar... ORPHA:1175
Spinocerebellar Ataxia Type 17
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... ORPHA:98759
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Seizure, Generalized myoclonic seizure, Myoclonus, Choreoathetosis, Ataxia, Bilat... OMIM:301020
X-Linked Charcot-Marie-Tooth Disease Type 6
Impaired vibration sensation in the lower limbs, Hand tremor, Decreased nerve conduction velocity... ORPHA:352675
Spinocerebellar Ataxia, Autosomal Recessive 32
Gait ataxia, Somatic sensory dysfunction, Limb myoclonus, Abnormal nerve conduction velocity, Pos... OMIM:619862
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... ORPHA:454887
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Cerebral atrophy, Cerebella... OMIM:617916
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, Bi... OMIM:617810
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... ORPHA:521406
Spinocerebellar Ataxia 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Trunca... OMIM:117360
Developmental And Epileptic Encephalopathy 92
Spasticity, Inability to walk, EEG abnormality, Myoclonus, Ataxia, Difficulty walking, Dystonia OMIM:617829
Spinocerebellar Ataxia, Autosomal Recessive 30
Titubation, Ataxia, Dysmetria, Tremor, Cerebral atrophy, Cerebellar atrophy, Unsteady gait OMIM:619405
Spinocerebellar Ataxia 15
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Babinski sign, Intention tremor, Dys... ORPHA:453521
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje... OMIM:616795
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... ORPHA:391411
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Spinocerebellar Ataxia Type 27
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... ORPHA:98764
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... ORPHA:397946
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Poor fine motor coordination, Cerebral cortical atrophy, Cerebellar vermis atrophy, ... ORPHA:512260
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Spinocerebellar Ataxia 50
Chorea, Cerebellar vermis atrophy, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Acti... OMIM:620158
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Corpus callosum atrophy, Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sig... OMIM:618088
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Bilateral tonic-clonic seizur... OMIM:618093
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Inability t... OMIM:614831
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Cerebellar hypoplasia, Spasti... ORPHA:314603
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... OMIM:618587
Roussy-Lévy Syndrome
Gait ataxia, Somatic sensory dysfunction, Postural tremor, Decreased motor nerve conduction veloc... ORPHA:3115
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Cerebell... OMIM:607346
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations OMIM:183050
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... ORPHA:98811
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the d... OMIM:610185
Cln5 Disease
Spasticity, Cerebral cortical atrophy, Dysdiadochokinesis, Inability to walk, Truncal ataxia, EEG... ORPHA:228360
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity, Ataxia, Hypertonia ORPHA:1368
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Cerebellar atrophy, Limb ataxia, Postural tremor OMIM:620174
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Seizure, Large for gestational age ORPHA:356996
Glut1 Deficiency Syndrome 2
EEG abnormality, Choreoathetosis, Ataxia, Tremor, Cerebral atrophy, Dystonia OMIM:612126
Spinocerebellar Ataxia Type 28
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... ORPHA:101109
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Paresthesia, Decreased motor nerve conduction velocity, Ataxia, Positive Romberg sig... OMIM:601098
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia, EEG abnormality OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa... OMIM:616719
Spinocerebellar Ataxia 46
Gait ataxia, Limb ataxia, Positive Romberg sign, Dysmetria, Cerebellar atrophy OMIM:617770
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Spasticity, Abnormal pyramidal sign, Abnormal pons morphology, Abnormal cerebellum m... ORPHA:98
Spinocerebellar Ataxia, Autosomal Recessive 26
Gait ataxia, Impaired distal vibration sensation, Dysdiadochokinesis, Oculomotor apraxia, Limb at... OMIM:617633
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Babinski sign, Dysmetri... OMIM:619806
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Inability to walk, Ataxia, Dysmetria OMIM:618501
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia OMIM:616366
Autosomal Dominant Spastic Paraplegia Type 8
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Up... ORPHA:100989
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, EEG with ... OMIM:254800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... ORPHA:216873
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, Myoclonus, Ataxia... ORPHA:248111
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Paraparesis, Gait d... OMIM:302800
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Typical absence seizure, Abnormal cerebellum morphology, Seizure, Abnormal ... ORPHA:101070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired distal vibration sensation, Hand tremor, Babinski sign, Impaired pain sensation, Decreas... OMIM:618279
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy OMIM:616494
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Neuroectodermal Melanolysosomal Disease
Spasticity, Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Rigid... ORPHA:33445
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Pseudohypoparathyroidism, Type Ia
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Short finger, Brachydactyly,... OMIM:103580
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Seizure, Ataxia, Steppage gait, Cerebellar atrophy, Distal sensory impairment OMIM:607250
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia OMIM:146350
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Cer... ORPHA:71517
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Brachydactyly, Short metatarsal, Hypoca... OMIM:612462
Spinocerebellar Ataxia 5
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Upper motor neuron dysfunction, Incoordination, Dys... OMIM:600224
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... ORPHA:90117
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Generalized myoclonic seizure... OMIM:614487
Spinocerebellar Ataxia Type 2
Gait ataxia, Chorea, Cerebral cortical atrophy, Postural tremor, Parkinsonism, Cerebellar Purkinj... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Spasticity, Limb ataxia, Ataxia, Dysmetria, Cerebellar atrophy OMIM:610743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hyperphosphatemia, Achilles tendon calcification, Hypercalcemia OMIM:617994
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Spinocerebellar Ataxia Type 21
Gait ataxia, Cerebellar vermis atrophy, Akinesia, Rigidity, Abnormality of extrapyramidal motor f... ORPHA:98773
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... OMIM:607136
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia OMIM:615159
Behr Syndrome
Cerebellar vermis atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babi... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 7
Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... OMIM:609270
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance, Seizure ORPHA:436141
Spinocerebellar Ataxia, Autosomal Recessive 18
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... OMIM:616204
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Cerebellar atrophy OMIM:609306
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Lower limb spasticity, Impa... ORPHA:100988
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,... ORPHA:1170
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Upper limb spasticit... OMIM:614409
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired vibration sensation in the lower limbs, Cerebellar vermis atrophy, Seizure, Spastic dysa... ORPHA:94124
Spinocerebellar Ataxia 44
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614229
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensatio... ORPHA:99014
Infantile Cerebellar-Retinal Degeneration
Decreased body weight, Focal-onset seizure, Ataxia, Failure to thrive, Bilateral tonic-clonic sei... OMIM:614559
Developmental And Epileptic Encephalopathy 56
EEG abnormality, EEG with polyspike wave complexes, Poor coordination, Ataxia, Action tremor, Bro... OMIM:617665
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Gait d... ORPHA:101077
Nephronophthisis 15
Obesity, Seizure, Cerebellar vermis hypoplasia OMIM:614845
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticu... ORPHA:330050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... OMIM:307800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Babinski sign, Bradykinesia, Gait ataxia, Dysmetria, Limb fasciculatio... OMIM:615157
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... ORPHA:206594
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia Type 29
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Oculomotor apraxia, Ataxia, Dysmetria... ORPHA:208513
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Postural tremor, Decreased motor n... OMIM:270685
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Dysmetria, Slurred speec... ORPHA:352403
Null Syndrome
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... ORPHA:280234
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy... ORPHA:139485
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Abnormal pyramidal sign, Brain atrophy, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Sl... OMIM:618317
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Spasticity, Chorea, I... OMIM:618917
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Ataxia, Bilat... OMIM:226750
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Ankle clonus, Ataxia, Babinski sign, Dysmetria, ... OMIM:159550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia, Unsteady gait,... OMIM:614877
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar atrophy, Dystonia, Neurodegen... OMIM:615889
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Short foot, Small hand, Micrognathia, Hypocalcemic seizures, Hypocalcemia, Sho... OMIM:241410
Parkinsonism With Polyneuropathy
Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso... OMIM:619279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve con... OMIM:609260
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... ORPHA:53583
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Atrophy of the spinal co... OMIM:612020
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Ataxia, Spa... OMIM:615491
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Cerebellar hypoplasia, Spastic dysarthria, Oculomotor apraxia, Ge... ORPHA:313772
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Rigidity, Gait disturbanc... OMIM:603472
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Poor fine motor coordination, Spastic ataxia, Ab... ORPHA:137898
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased motor nerve conduction velocity, Upper limb postural tremor, Action tremor... OMIM:180800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Oc... OMIM:208920
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Titubation, ... ORPHA:280219
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... ORPHA:98772
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Global brain atrophy, Parkinsonism, Ataxia, Tremor, Cerebellar atrophy, Action tremor, Hy... OMIM:619738
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Blepharospasm, Seizure, Focal-onset seizure, Clumsiness, Generalized myoclonic se... ORPHA:352582
Spinocerebellar Ataxia Type 1
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... ORPHA:98755
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of the... OMIM:127000
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... OMIM:618049
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Episodic Ataxia, Type 5
Truncal ataxia, Myoclonus, Episodic ataxia, EEG with generalized spikes, Ataxia, EEG with spike-w... OMIM:613855
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomot... OMIM:183090
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor, Interictal epileptiform activity OMIM:615400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia 34
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Dysdiadochokinesis, ... OMIM:133190
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Narcolepsy Type 1
Cataplexy, Slurred speech, Obesity ORPHA:2073
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Spinocerebellar Ataxia 6
Cerebral cortical atrophy, Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular refl... OMIM:183086
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
X-Linked Dystonia-Parkinsonism
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... ORPHA:53351
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Cerebellar atrophy, Progressive cere... OMIM:608768
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Developmental And Epileptic Encephalopathy 42
EEG abnormality, Ataxia, Tremor, Hypertonia, Athetosis OMIM:617106
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Gait ataxia, Spasticity, EEG abnormality, Cerebellar hypoplasia, Oculomotor apraxia, Dysmetria, T... ORPHA:529665
Spastic Ataxia 3, Autosomal Recessive
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Cerebellar vermis atrophy, At... OMIM:611390
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Spinocerebellar Ataxia Type 36
Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, Limb ataxia, Han... ORPHA:276198
Hemiparkinsonism-Hemiatrophy Syndrome
Brain atrophy, Parkinsonism, Hemiparesis, Cerebral cortical hemiatrophy, Tremor, Difficulty walki... ORPHA:306669
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Spasticity, Seizure, Spastic dysarthria, Babinski sign, Overweigh... ORPHA:280763
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Spinocerebellar Ataxia Type 10
Gait ataxia, Gait imbalance, EEG with generalized epileptiform discharges, Dysdiadochokinesis, Ba... ORPHA:98761
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... OMIM:615528
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Seizure, Tongue fasciculations, Ataxia, Babinski sign, Bilateral tonic... OMIM:618170
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Late-Infantile/Juvenile Krabbe Disease
Tetraplegia, Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Impair... ORPHA:206443
Spinocerebellar Ataxia 13
Gait ataxia, Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Myoclonus,... OMIM:605259
Ataxia-Oculomotor Apraxia 4
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy, Impaired vi... OMIM:616267
Developmental And Epileptic Encephalopathy 47
Inability to walk, Focal-onset seizure, Status epilepticus, Limb ataxia, Ataxia, Gait disturbance... OMIM:617166
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Gait... ORPHA:542310
Spinocerebellar Ataxia Type 18
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Cerebellar atrophy ORPHA:98771
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Seizure, Inability to walk, Generalized myoclonic seizure, Ataxia, Lower limb spasticity, Obesity... OMIM:616756
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Cerebellar atrophy OMIM:612016
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait OMIM:614867
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Bulging epiphyses, Hypophosphatemia, Tibial bowing, Femoral bowing, Bow... OMIM:600081
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Cerebral cortical atrophy, Ataxia OMIM:300983
Joubert Syndrome 32
Abnormal cerebellum morphology, Oculomotor apraxia, Large for gestational age, Ataxia, Tall stature OMIM:617757
Dentatorubral Pallidoluysian Atrophy
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... ORPHA:101
Hsd10 Disease
Frontotemporal cerebral atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, ... ORPHA:391417
Spastic Ataxia, Charlevoix-Saguenay Type
Impaired vibration sensation in the lower limbs, Spasticity, Cerebellar vermis atrophy, Spastic a... OMIM:270550
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Tremor, Cerebellar ... OMIM:617435
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... OMIM:618877
Ataxia With Vitamin E Deficiency
Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis, Clumsiness, Gait dist... OMIM:277460
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Acrodysostosis 1 With Or Without Hormone Resistance
Short phalanx of finger, Hyperphosphatemia, Short metacarpal, Long hallux, Epiphyseal stippling, ... OMIM:101800
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Pseudohypoparathyroidism Type 1C
Broad distal phalanx of the thumb, Hypocalcemic tetany, Hyperphosphatemia, Short 4th metacarpal, ... ORPHA:79444
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Short humerus, Lateral femoral bowing, Hydroxyprolinemia, Bowin... OMIM:239000
Ataxia-Telangiectasia-Like Disorder 1
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... OMIM:604391
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking OMIM:619191
Leukodystrophy, Hypomyelinating, 6