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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
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
decreased hemoglobin content Sptbn2tm1b(EUCOMM)Hmgu HOM   Early adult 9.53×10-05
short tibia Sptbn2tm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-05
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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 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
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... 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
Distal sensory impairment, Paresthesia, Sensory ataxia OMIM:616491
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia Type 4
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, 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, Ataxia, Impaired vibratory sensation OMIM:176250
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Angelman syndrome (Type 1)
EEG abnormality, Truncal ataxia DECIPHER:4
Angelman syndrome (Type 2)
EEG abnormality, Truncal ataxia DECIPHER:54
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk OMIM:209100
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Cerebellar vermis atrophy, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Somatic sensory dysfunction OMIM:300905
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Megalencephaly With Dysmyelination
Ataxia, EEG with photoparoxysmal response, Spasticity OMIM:249240
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Ataxia, Inability to walk, EEG abnormality, Cerebellar hypoplasia OMIM:618174
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Intellectual Developmental Disorder, Autosomal Recessive 53
Ataxia, EEG with focal spikes, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait OMIM:605388
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Hypertonia, Spasticity, Rigidity ORPHA:2672
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... OMIM:617665
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, Ataxia, EEG abnorm... OMIM:600143
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Ataxia, EEG abnormality, Spasticity OMIM:619228
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Impaired v... OMIM:610245
Autosomal Recessive Spastic Paraplegia Type 27
Impaired vibration sensation at ankles, Babinski sign, Abnormality of somatosensory evoked potent... ORPHA:101007
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... OMIM:618876
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, EEG with polyspike wave complexes, ... ORPHA:308
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign ORPHA:85292
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Parkinsonism, Abnormal ... OMIM:162350
Spastic Paraplegia 80, Autosomal Dominant
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology OMIM:618418
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Gait ataxia OMIM:615705
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Cerebellar atrophy, Myoclonic seizure, Bilateral tonic-clonic seizu... OMIM:611726
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Seizure, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking ORPHA:363432
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Brachydactyly, Hypocalcemia OMIM:603233
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Episodic Ataxia, Type 9
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Cerebellar edema, Seizure, Clonic seizur... OMIM:618924
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy of the dent... OMIM:125370
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Ceroid Lipofuscinosis, Neuronal, 11
Seizure, Ataxia, Generalized myoclonic seizure, Cerebellar atrophy OMIM:614706
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Hypertonia, Olivopontocerebellar atrophy, EEG abnormality, Cerebral cortical atrophy ORPHA:2732
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Gait disturbance, Tremor, Diffuse cerebral atrophy, Spastic paraplegia OMIM:300660
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Cerebellar Ataxia, Cayman Type
Gait ataxia, Broad-based gait, Intention tremor OMIM:601238
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, EEG abnormality, Cerebral atrophy OMIM:612126
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Dysmetria, Myoclo... OMIM:256731
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Neuronal loss in central nervous system, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetr... OMIM:615924
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Ataxia, Cerebral degeneration OMIM:260970
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Rigidity, Fa... OMIM:300423
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... ORPHA:79262
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Spasticity, Large for gestational age ORPHA:356996
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Babinski sign, Cerebellar atrophy, Bilateral tonic-clonic seizure, Frequent fal... ORPHA:93952
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Camos Syndrome
Progressive extrapyramidal movement disorder, Seizure, Aplasia/Hypoplasia of the cerebellum, Atax... ORPHA:83472
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Hypophosphatemia, Hypocalcemia, Flared metaphysis, Metaphyseal cu... OMIM:619073
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor OMIM:615048
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Developmental And Epileptic Encephalopathy 92
Dystonia, Myoclonus, Ataxia, Inability to walk, EEG abnormality, Spasticity, Difficulty walking, ... OMIM:617829
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Seizure, Truncal obesity, Large for gestational age OMIM:240900
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism OMIM:600116
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... ORPHA:401820
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Falls, Resting tremor, Shor... ORPHA:306692
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ataxia ORPHA:101078
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... OMIM:616719
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Spastic ataxia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Hemiplegia/hemipa... ORPHA:2572
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Increased neuronal autofluorescent lipopigment, Myoclonus, Abnormality of extrapyramidal motor fu... OMIM:204300
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Bilateral tonic-clonic seizure, Dysmetria,... OMIM:618093
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Abnormal sensory nerve conduction ve... ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:607876
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... OMIM:617633
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inabili... OMIM:617810
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Jerk-locked premyoclonus spikes, Enhancement of the C-reflex OMIM:615127
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Seizure, Ce... ORPHA:248111
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis OMIM:609161
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Knee clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Bila... OMIM:618917
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations, Cerebral atr... OMIM:618170
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Aplasia of the inferior half of the ... OMIM:610185
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... ORPHA:98759
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy OMIM:617916
Diaminopentanuria
Ataxia, Spasticity, Neurodegeneration OMIM:222350
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Impaired p... ORPHA:3115
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity ORPHA:1368
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality OMIM:617836
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Chronic Inflammatory Demyelinating Polyneuropathy
Fatiguable weakness of proximal limb muscles, Motor conduction block, Paresthesia, Falls, Decreas... ORPHA:2932
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Torticollis, Spasti... ORPHA:397946
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxi... OMIM:614487
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Ataxia, Spasticity OMIM:183050
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... OMIM:617282
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Abnormal pons morphology, Abnormal motor evoked potentials, Cerebellar atrophy, Dy... ORPHA:98
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia, EEG abnormality OMIM:617831
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... ORPHA:101070
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... ORPHA:101109
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Glutathionuria
Tremor OMIM:231950
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Spasticit... ORPHA:314603
Spastic Paraplegia 10, Autosomal Dominant
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... OMIM:604187
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, EEG with polyspike wave complexes, Truncal ataxia, Gait ataxia, EEG wi... OMIM:618587
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Babinski sign, Gait disturbance, Cerebellar atrophy, F... OMIM:302800
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Seizure, Oculomotor apraxia, Inability to walk, Ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:618273
Neuroectodermal Melanolysosomal Disease
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypopl... ORPHA:33445
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... ORPHA:65684
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts,... ORPHA:100999
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Distal sensory impairment, Abn... ORPHA:90117
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia, Abnormal nerve conduction... ORPHA:99014
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Focal impaired a... ORPHA:330050
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Short finger, Short metatarsal, Short metacarpal, Short toe, Hyperphosphatem... OMIM:103580
3-Methylglutaconic Aciduria Type 3
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis ORPHA:67047
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Seizure, Ataxia, Distal sensory impairment OMIM:607250
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Generalized non-motor (absence) seizure, Ataxia, Spasticity, Difficulty walking, A... OMIM:618242
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Leukodystrophy, Hypomyelinating, 16
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Abnormal pyramidal sign, Gai... OMIM:617964
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Ataxia, Cerebellar vermis atrophy, Inability to walk, Gait ataxia OMIM:618501
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... ORPHA:98773
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Myoclonic Epilepsy Of Unverricht And Lundborg
Interictal epileptiform activity, Myoclonus, Ataxia, EEG with polyspike wave complexes, EEG with ... OMIM:254800
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Cerebellar Purkinje layer atro... ORPHA:98756
Null Syndrome
Decreased nerve conduction velocity, Ataxia, Inability to walk, Difficulty walking, Progressive s... ORPHA:280234
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... ORPHA:206594
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Gait disturbance, Tremor, Inability to walk, Difficult... ORPHA:101077
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemic seizures, Small hand, Short foot, Short palm, Hypocalcemia, Hyperphosp... OMIM:241410
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Obesity, Gait disturbance ORPHA:436141
Pontocerebellar Hypoplasia, Type 14
Dystonia, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Myoclonic sei... OMIM:619301
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysar... ORPHA:313772
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity OMIM:616140
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... ORPHA:100988
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Oculomotor apraxia, Dysdiadochokinesis, ... ORPHA:208513
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Small for gestational age, Choreoathetosis, Dilated fourth ventricle, Torticollis,... OMIM:619054
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Chorea, Paroxysmal dyskinesia, Falls, Stereotypy, Ataxia, EEG abnorm... OMIM:619150
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Steppage gait, Spastic dysarthria, Seizure, Cerebellar vermis atr... ORPHA:94124
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Short metatarsal, Short metacarpal, Hyperphosphatemia, Brachydactyly OMIM:612462
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Cerebellar atrophy, Dysmetria, Failure to thrive, Seizure, Ataxia, Spasticity OMIM:617954
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar h... OMIM:224050
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials OMIM:608105
Familial Infantile Myoclonic Epilepsy
Clumsiness, Gait disturbance, Cerebellar atrophy, Limb myoclonus, Bilateral tonic-clonic seizure,... ORPHA:352582
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Dystonia With Ringbinden
Dystonia, Chorea, Gait disturbance OMIM:224550
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... OMIM:617672
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Diaphyseal sclerosis, Laryngeal dystonia, Cortical su... ORPHA:94089
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Babinski sign, Steppage gait, Decreased sensory nerve ... OMIM:609260
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Focal impaired awareness seizure, Spee... OMIM:245570
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, S... ORPHA:100989
Ataxia-Pancytopenia Syndrome
Babinski sign, Cerebellar atrophy, Dysmetria, Decreased nerve conduction velocity, Distal sensory... OMIM:159550
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Hyperactivity, Micrognathia, Clinodactyly OMIM:608747
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal sensory impairment, Action tremor, Upper limb p... OMIM:180800
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Episodic Ataxia Type 6
Cerebellar atrophy, Seizure, Ataxia, Slurred speech, Hemiplegia ORPHA:209967
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, ... OMIM:612953
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Gait disturbance, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... OMIM:612020
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:36913
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... OMIM:603472
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Hypophosphatemia, Tr... OMIM:307800
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Ep... OMIM:104290
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Bilateral tonic-clonic seizure OMIM:608278
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Spasticity OMIM:618088
Hypophosphatemic Bone Disease
Hypophosphatemia, Bowing of the legs OMIM:146350
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Failure to thrive, Myoclonus, Seizure, Ataxia, Hypertonia, Spasticity OMIM:618426
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality, Spasticity, Cerebella... ORPHA:529665
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Abnormality of somatosensory evoked potentials, Dystonic gait, Abnormality o... ORPHA:280219
Nephronophthisis 15
Seizure, Cerebellar vermis hypoplasia, Obesity OMIM:614845
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Spinocerebellar Ataxia Type 1
Impaired proprioception, Postural tremor, Gait disturbance, Cerebellar atrophy, Abnormality of so... ORPHA:98755
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking OMIM:619191
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... ORPHA:53583
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Seizure, Waddling ga... ORPHA:280763
Kohlschutter-Tonz Syndrome
Hypsarrhythmia, Ataxia, Cerebellar hypoplasia, Spasticity, Cerebral atrophy OMIM:226750
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... OMIM:617435
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Spas... OMIM:614409
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Genu varum, Short middle phalanx of finger, Irregu... OMIM:156500
Continuous Spikes And Waves During Sleep
Clumsiness, Focal hemiclonic seizure, Dystonia, Typical absence seizure, Bilateral tonic-clonic s... ORPHA:725
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity, Cerebral cortical atrophy OMIM:300983
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity OMIM:612716
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Spastic Paraplegia 26, Autosomal Recessive
Babinski sign, Dystonia, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Loss of ... ORPHA:276198
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Decreased nerv... ORPHA:206443
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Oculomotor apraxia, Unsteady gait OMIM:614867
Narcolepsy Type 1
Obesity, Slurred speech, Cataplexy ORPHA:2073
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Axonal degeneration, Fasciculations, Distal sensory impairment, Te... OMIM:604484
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Neurodegeneration, Br... OMIM:606159
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... OMIM:608768
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Hypophosphatemia, De... OMIM:600081