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Gene: Tubb4a MGI:107848

Gene Summary

Name:

tubulin, beta 4A class IVA

Synonyms:

Tubb, Tubb4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
decreased fasting circulating glucose level		Tubb4a^{tm1.1(KOMP)Wtsi}	HOM		Early adult	3.20×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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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	Section images	heterozygote	100% (2 of 2)
Brainstem	Section images	heterozygote	100% (2 of 2)
Cerebellum	Section images	heterozygote	100% (2 of 2)
Cerebral cortex	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Hippocampus	Section images	heterozygote	100% (2 of 2)
Hypothalamus	Section images	heterozygote	100% (2 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Olfactory lobe	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	100% (2 of 2)
Striatum	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thalamus	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	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)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
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)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	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)
Urinary bladder	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)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 2)
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	Ambiguous

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

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 Section

13 Images

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Embryo LacZ

LacZ images wholemount

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

View images

Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Tubb4a 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.

Human diseases associated with Tubb4a (3 diseases)
Human diseases predicted to be associated with Tubb4a (1736 diseases)

The table below shows human diseases associated to Tubb4a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Ataxia, Rigidity, Tremor, Optic atrophy, Hypotonia, Choreoat...	OMIM:612438
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia, Sl...	OMIM:128101
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ...	ORPHA:98805

The table below shows human diseases predicted to be associated to Tubb4a by phenotypic similarity.

Disease	Matching phenotypes	Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis...	OMIM:619742
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination, Abnormal pyramidal sign, Abnormal cerebellum morphology	ORPHA:85163
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity	OMIM:616494
Autosomal Recessive Spastic Paraplegia Type 32	Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pons morphology, Difficu...	ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Null Syndrome	Ataxia, Inability to walk, Abnormal cerebellum morphology, CNS hypomyelination, Progressive spast...	ORPHA:280234
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Limb ataxia, CNS hypom...	OMIM:617560
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy	ORPHA:363432
Periventricular Nodular Heterotopia 8	Delayed CNS myelination, Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity	OMIM:618185
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental...	OMIM:606482
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ...	OMIM:617018
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A...	OMIM:611252
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:600143
Pelizaeus-Merzbacher Disease, Transitional Form	CNS hypomyelination	ORPHA:280224
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Ataxia, CNS hypomyelination	ORPHA:88637
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Ataxia, Spastic tetraparesis, Cavitating leukodystrophy	OMIM:619061
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Los...	ORPHA:225154
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg...	OMIM:302800
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:527497
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In...	OMIM:312080
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Hypertrop...	OMIM:214400
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Cerebral dysmyelination, Periventricular heterotopia...	ORPHA:1083
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Cerebral a...	OMIM:618468
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Impaired distal vibration sensation, Babinski sign, Hand tremor, Distal ...	OMIM:618279
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Progressive cerebellar ataxia, Torticollis	OMIM:611694
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Tremor, Decreased number of large per...	OMIM:208920
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, D...	OMIM:614895
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, CNS hypomye...	OMIM:617951
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s...	ORPHA:101111
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia	OMIM:614322
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomyelination, Upper limb s...	ORPHA:300605
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Pontocerebellar Hypoplasia, Type 2D	Appendicular spasticity, Cerebellar atrophy, Clonus, Delayed myelination, Chorea, Spastic tetrapl...	OMIM:613811
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per...	OMIM:180800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS...	OMIM:607694
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Axial hypotonia, Ataxia, Rigidity, Tremor, Optic atrophy, Hypotonia, Choreoat...	OMIM:612438
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G...	OMIM:616230
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Hypertonia, Lissencephaly, Pachygyria,...	OMIM:618730
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Generalized hypotoni...	ORPHA:98916
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, CNS hypomyelin...	ORPHA:369939
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Hereditary Methemoglobinemia	Cerebellar atrophy, Small for gestational age, Delayed myelination, Spastic tetraplegia, Temporal...	ORPHA:621
Spinocerebellar Ataxia 12	Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, H...	OMIM:604326
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ...	OMIM:615185
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Ataxia, Impaired distal proprioception, Babinski sign, Impaired vibration sensat...	ORPHA:447896
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Atrophy/Degenerat...	OMIM:613477
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubation, Demyelinating motor n...	OMIM:608804
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Axonal degeneration/regeneration, Onion bulb formation, Segmental peripheral demyelination/remyel...	OMIM:606483
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dyston...	OMIM:300475
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Impaired d...	ORPHA:101097
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Ataxia	OMIM:614706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Distal sensory impairment...	OMIM:601098
Nescav Syndrome	Appendicular spasticity, Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebral a...	OMIM:614255
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, Spasticity, Polymic...	OMIM:618973
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory i...	OMIM:618387
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec...	OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a...	OMIM:613728
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Cerebral atrophy, Hypertonia, Upper limb spast...	OMIM:613925
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv...	ORPHA:401840
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ...	OMIM:614436
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Impaired vibratory sensation, Cerebellar ...	OMIM:607250
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination	OMIM:616684
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Segmental peripheral de...	OMIM:145900
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Spastic paraplegia, Impaired distal vibratio...	OMIM:615035
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Spasticity	OMIM:619125
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu...	OMIM:236792
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Cerebral atrophy, Truncal ataxia	OMIM:611726
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Demyelinating motor neur...	ORPHA:206594
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia, Simplified gyral pattern	OMIM:613402
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gliosis, Myoclonus, Gait disturban...	OMIM:221770
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, CNS hypomyel...	OMIM:614381
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc...	OMIM:224050
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst...	OMIM:617916
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Abnormal pyramidal sign, Gait dis...	OMIM:616859
Giant Axonal Neuropathy	Facial palsy, Abnormal cerebellum morphology, Babinski sign, Unsteady gait, CNS hypomyelination, ...	ORPHA:643
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness	OMIM:610003
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Spastic tetraparesis, Brain atrophy	OMIM:618741
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Spastic paraplegia, Ataxia, CNS hypomyelination	OMIM:619688
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, CNS h...	OMIM:610532
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Dis...	OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Limb a...	OMIM:616127
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Congenital Disorder Of Glycosylation, Type Iiz	Appendicular spasticity, Diffuse cerebellar atrophy, Clonus	OMIM:620201
Developmental And Epileptic Encephalopathy 78	Cerebral palsy, Inability to walk, Chorea, Hypotonia, CNS hypomyelination, Generalized hypotonia,...	OMIM:618557
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Motor axonal ne...	OMIM:618276
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Delayed myelination, ...	ORPHA:79097
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Waddling gait, Delayed CNS myelination, Babinski sign, Cerebral atrophy, Spas...	OMIM:619090
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista...	OMIM:607731
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy, CNS hypomyelination	OMIM:614482
Spastic Paraplegia 44, Autosomal Recessive	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Distal sensory impai...	OMIM:613206
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Peripheral axonal neuropathy, Tremor, B...	OMIM:607317
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Leukodystrophy, Dystonia	OMIM:619196
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis	Inability to walk, Delayed CNS myelination, Tetraplegia, Cerebral atrophy	OMIM:618331
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Ataxia, Corpus callosum atrophy, Inability to walk, Ce...	OMIM:619389
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 56	Peripheral axonal neuropathy, Babinski sign, Spastic paraplegia, Unsteady gait, Tip-toe gait, Dys...	ORPHA:320411
Intellectual Developmental Disorder, Autosomal Recessive 60	Delayed CNS myelination	OMIM:617432
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Titubation, Gliosis, ...	ORPHA:280210
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ...	ORPHA:98
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal...	OMIM:619806
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Hypotonia, Gait ataxia, Loss of ambulation, CNS demyelinatio...	OMIM:249900
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Lower limb spasticity, Optic disc pallor, Axial hypotonia, Ataxia, Babinski sign, Spastic diplegi...	OMIM:615281
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ...	OMIM:117360
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ...	ORPHA:445062
Krabbe Disease	Diffuse cerebral atrophy, Axial hypotonia, Hydrocephalus, Optic atrophy, Hypotonia, Hypertonia, N...	OMIM:245200
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce...	OMIM:600795
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch...	ORPHA:289494
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy	OMIM:610951
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr...	ORPHA:101108
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Peripheral axonal neuropathy, Babinski sign, Spastic paraplegia, Unsteady gait, Tip-toe gait, Dys...	OMIM:615030
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Dystonia 23	Cerebellar atrophy, Torticollis, Gait disturbance, Myoclonus, Head tremor, Cerebral cortical atrophy	OMIM:614860
Dystonia 30	Torticollis, Diffuse cerebral atrophy, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Orom...	OMIM:619291
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia, Sl...	OMIM:128101
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous...	OMIM:143100
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst...	ORPHA:98934
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sen...	OMIM:605361
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy	ORPHA:309169
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso...	ORPHA:99953
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthria, Progressive cerebellar ...	ORPHA:1175
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,...	ORPHA:280219
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Lower limb hypertonia, Pseudo...	ORPHA:438114
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Optic atrophy, Hypotonia, CNS demyelination, Gliosis, Gait disturbance, Generalize...	OMIM:603896
Spinocerebellar Ataxia Type 2	Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet...	ORPHA:98756
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Cerebral atrophy, CNS hypomyelinatio...	OMIM:618012
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Simplified gyral pattern, Cerebellar vermis atrophy, CNS hypomyelination	OMIM:615760
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona...	ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai...	OMIM:609311
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Impaired ...	OMIM:607706
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst...	OMIM:612319
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, CNS hypomyelination, Difficulty walking	ORPHA:320401
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal...	OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper...	OMIM:616981
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Delayed CNS myelination, Inability to walk, Babinski sign, Hypotonia, Spastic tetraplegia, Cerebr...	OMIM:616657
Gordon Holmes Syndrome	Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy	OMIM:212840
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Slurred speech, Gait ataxia	OMIM:619323
Autosomal Recessive Spastic Paraplegia Type 69	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr...	ORPHA:401830
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Impaired te...	OMIM:619686
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro...	OMIM:604168
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer...	OMIM:604213
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin...	OMIM:616756
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Lissencephaly 8	Appendicular spasticity, Retrocerebellar cyst, Cerebellar hypoplasia, Cerebral hypomyelination, P...	OMIM:617255
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ...	OMIM:213200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Hypotonia, Ataxia, Cerebellar hypoplasia	OMIM:213000
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Glios...	OMIM:221820
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo...	OMIM:169500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
Developmental And Epileptic Encephalopathy 86	CNS hypomyelination, Small for gestational age, Generalized hypotonia, Dystonia	OMIM:618910
Developmental And Epileptic Encephalopathy 79	Frontotemporal cerebral atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination	OMIM:618559
Adult Krabbe Disease	Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Ataxia, Broad-based gait, Pro...	ORPHA:206448
Spinocerebellar Ataxia 17	Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Ri...	OMIM:607136
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Severe muscular hypotonia, Inability to w...	OMIM:618184
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Parkinsonism, Cerebral cortical atrophy, Craniofacial dystonia	ORPHA:370103
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Limb ...	OMIM:600224
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting th...	OMIM:617862
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Delayed CNS myelination, Optic atrophy, Abnormal pyramidal sign, Hemipa...	ORPHA:352596
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Spa...	OMIM:616339
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple...	OMIM:618404
Leukodystrophy, Hypomyelinating, 16	Optic disc pallor, Delayed CNS myelination, Broad-based gait, Abnormal pyramidal sign, Hypotonia,...	OMIM:617964
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,...	OMIM:617145
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Frequent fa...	OMIM:611228
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Babinski sign, Difficulty walking, Progressive spastic paraplegia	ORPHA:468661
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Cerebral cortical atrophy, Difficulty walking	OMIM:619425
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications	Delayed CNS myelination	OMIM:618875
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based...	OMIM:615490
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Appendicular spasticity, Delayed CNS myelination, Inability to walk, Agenesis...	OMIM:618324
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons, Myoclonus	OMIM:619303
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Segmental peripheral demyelination/remyelination, Hand parest...	OMIM:162500
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotoni...	OMIM:619054
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, CNS hypomyelination, Spasticity	OMIM:619286
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ataxia, Abnormal cerebellum morphology, Babinski sign, Difficulty walking, Leukodystrophy, Spasti...	OMIM:618242
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Spasticity, Cerebral atrophy	OMIM:617899
Adenylosuccinase Deficiency	Cerebellar atrophy, Inability to walk, Hypotonia, Cerebral atrophy, Opisthotonus, Gait ataxia, CN...	OMIM:103050
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dystonia, O...	OMIM:614487
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati...	OMIM:604360
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Axial hypotonia, Inability to walk, Babinski sign, CNS hypomyelination, Lower ...	OMIM:619328
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairmen...	OMIM:605285
Multiple Mitochondrial Dysfunctions Syndrome 4	Optic atrophy, Leukodystrophy	OMIM:616370
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage...	OMIM:608340
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Delayed myelination, Hypotonia, Spastic tetraplegia, Dystonia,...	ORPHA:599373
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,...	OMIM:605588
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Delayed CNS myelination, Axial hypotonia, Cerebral atrophy, Athetosis, Dyston...	OMIM:617132
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Babinski sign, Cogwheel rigidity, Hypertonia, Dystonia, Decreased body weight, Spastic gait	OMIM:618284
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Simplified gyral pattern, Cerebral atrophy, Hyperton...	OMIM:615095
Spinocerebellar Ataxia, Autosomal Recessive 27	Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a...	ORPHA:248111
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Delayed myelination, Optic atrophy, Hypotonia, Cerebral atrophy, Hemip...	OMIM:615338
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity	OMIM:619687
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia	OMIM:619681
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment	OMIM:616155
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Cerebral atr...	OMIM:612164
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Peripheral demyelination, Distal sensory impairment	ORPHA:99944
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P...	ORPHA:71211
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia	OMIM:618093
Leukodystrophy, Hypomyelinating, 10	Axial hypotonia, Inability to walk, Babinski sign, Cerebral atrophy, CNS hypomyelination, Hyperki...	OMIM:616420
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Spasticity, Ataxia, Spastic tetraplegia	OMIM:617207
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ...	OMIM:614409
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Delayed CNS myelination, Axial hypotonia, Inability to walk, Hypotonia, CNS hypomyelination, Hype...	OMIM:616577
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Axial hypotonia, Ataxia, Hypotoni...	OMIM:619260
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Rigidity, Inability to walk, CNS hypomyelination, Choreoathetosis, Hypertonia	OMIM:620023
Spastic Ataxia 3, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit...	OMIM:611390
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Opti...	OMIM:617954
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired distal vibration sensation, Abnormal pyramidal sign, Dysmetria, B...	OMIM:618438
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai...	OMIM:600882
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Dysmyelinating leukod...	ORPHA:137898
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe...	ORPHA:314603
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Leukodystrophy, Generalized hypotonia, Dystonia	OMIM:616763
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair...	OMIM:607684
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity	OMIM:615889
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat...	OMIM:607259
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia	OMIM:613909
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Optic atrophy, Hypotonia, CNS hypomyelination, Gliosis, Neurodegeneration, Ge...	OMIM:616239
Developmental And Epileptic Encephalopathy 17	Delayed CNS myelination, Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia	OMIM:615473
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Difficulty walking, Sensory ataxia, Dystonia	OMIM:619661
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f...	OMIM:301020
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate...	OMIM:271245
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia	ORPHA:276183
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin...	OMIM:159550
Retinal Dystrophy With Leukodystrophy	Waddling gait, Truncal titubation, Dysmetria, CNS hypomyelination, Falls	OMIM:618863
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy...	OMIM:616811
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Cerebel...	ORPHA:313772
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib...	OMIM:128230
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Abnormal pyrami...	OMIM:616680
Mitochondrial Dna Depletion Syndrome 18	Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive	OMIM:618811
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, CNS hypomyelination, Leukodystrophy, Sp...	OMIM:619576
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Delayed CNS myelination, Involuntary movements, Chorea, Cerebral atrophy, Ath...	OMIM:617493
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degene...	OMIM:619971
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain...	OMIM:608703
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Cerebral atrophy, Tip-toe gait, Progres...	ORPHA:496689
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal...	ORPHA:171629
Charcot-Marie-Tooth Disease Type 4A	Demyelinating peripheral neuropathy, Impaired pain sensation, Impaired distal proprioception, Dec...	ORPHA:99948
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia	OMIM:618879
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, O...	OMIM:617193
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa...	OMIM:615924
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia	OMIM:617915
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, Broad-based gait, Inability to walk, Hypotonia, CNS hypomyelination, Myo...	OMIM:616158
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste...	ORPHA:79263
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait d...	OMIM:250100
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Impaired vibration sensation i...	ORPHA:251282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Hyp...	OMIM:615356
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Delayed CNS myelination, Spastic tetraparesis, Cerebellar vermis atrophy, Cerebral atrophy, Spast...	OMIM:616154
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial diplegia, Peripheral hypomyeli...	OMIM:616287
Charcot-Marie-Tooth Disease, Type 4D	Impaired distal proprioception, Segmental peripheral demyelination/remyelination, Impaired distal...	OMIM:601455
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Athetosis, Tetraparesis, Dyst...	OMIM:619310
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Hypotonia, Frequent f...	OMIM:620011
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia	ORPHA:71517
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Spastic Ataxia 1, Autosomal Dominant	Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia	OMIM:108600
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppa...	OMIM:615376
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia...	OMIM:616719
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas...	OMIM:615157
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, D...	OMIM:615643
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s...	OMIM:603516
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Babinski sign, Slurred speech, Truncal ataxia, Dysmetria, Gait atax...	ORPHA:453521
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Demyelinating motor neuropathy, Unsteady ga...	OMIM:616479
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Inability to walk	OMIM:618006
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab...	ORPHA:320391
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination	OMIM:200100
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Dystonia 32	Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia	OMIM:619637
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Babinski sign, CNS hypomyelination, Facial diplegia, Dystonia, Spas...	OMIM:618186
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Facial palsy, Irregular myelin loops	OMIM:601382
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti...	ORPHA:431329
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Broad-based gait, Babinski sign, Abnormal pyramidal sign, Dysmetria, ...	ORPHA:363429
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,...	ORPHA:88628
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Clonus, Hypotonia, Tetraplegia, Gliosis, Generalized hypotonia, Spastici...	OMIM:614959
Striatonigral Degeneration, Childhood-Onset	Unsteady gait, Hypotonia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, ...	OMIM:617054
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Hypoplasia of the pons, Hypotonia, Hand tremor, Limb ataxia, Hypoplasia of the ventral po...	OMIM:607596
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,...	OMIM:615491
Spinocerebellar Ataxia 21	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim...	OMIM:607454
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque...	ORPHA:370980
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Distal sensory impairment, Spasticity, Demy...	OMIM:612674
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C...	ORPHA:216873
Pontocerebellar Hypoplasia, Type 14	Delayed CNS myelination, Hypoplasia of the pons, Simplified gyral pattern, Spastic tetraplegia, H...	OMIM:619301
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Athetosis, Cerebral cortical atrophy, Demyelinating peripheral neurop...	OMIM:614559
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Hypotonia, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
X-Linked Charcot-Marie-Tooth Disease Type 3	Peripheral axonal neuropathy, Somatic sensory dysfunction, Tremor, Inability to walk, Gait distur...	ORPHA:101077
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Striatonigral Degeneration, Infantile	Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:271930
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioceptio...	OMIM:609033
Combined Saposin Deficiency	Babinski sign, Optic atrophy, Hypotonia, Hyperkinetic movements, Myoclonus, Fasciculations, CNS d...	OMIM:611721
Episodic Ataxia Type 6	Hemiplegia, Slurred speech, Ataxia, Cerebellar atrophy	ORPHA:209967
Ddost-Cdg	Tremor, Oromotor apraxia, CNS hypomyelination, Generalized hypotonia, Failure to thrive	ORPHA:300536
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc...	ORPHA:275864
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Perisylvian polymicrogyria, Cerebral atrophy	OMIM:619605
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Athetosis, Gait disturbance...	OMIM:618241
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H...	ORPHA:101109
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Delayed CNS myelination, Axial hypotonia, Ataxia, Inability to walk, Hypotoni...	OMIM:619580
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, Simplified gyral pattern, CNS hypomyelination, Brain atrophy, Pachy...	OMIM:615966
Leukoencephalopathy, Cystic, Without Megalencephaly	Ataxia, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity	OMIM:612951
Episodic Ataxia, Type 6	Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ...	OMIM:612656
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor func...	OMIM:610743
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Severe muscular hypotonia, Tremor, Spastic paraplegia, Babinski sign, Abnormal ...	ORPHA:477673
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypoto...	ORPHA:508093
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Pseud...	OMIM:616140
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Axial hypotonia, Babinski sign, Optic atrophy, CNS hypomyelination, Frontal co...	OMIM:618437
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Dysmetria, Leukodystrophy, Inten...	OMIM:618688
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Hyperkinetic mo...	OMIM:618285
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic...	OMIM:616034
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Severe demyelination of the white matter, Inability to walk, Hypotonia, CNS hypomyelinati...	ORPHA:481152
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia	OMIM:613612
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Frequent falls	OMIM:615217
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ...	ORPHA:284289
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Spastic tetraparesis, Delayed myelination, Optic atrophy, Hypotonia, C...	OMIM:614261
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, Hypotonia, CNS hypomyelination, Gait dis...	ORPHA:280229
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Severe demyelination of the white matter, Gait ataxia, Gait imbalance, Cerebe...	ORPHA:488635
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr...	OMIM:617435
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cer...	ORPHA:33445
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,...	OMIM:183090
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy	OMIM:300983
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Abnormal muscle to...	ORPHA:478029
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, CNS demy...	OMIM:618237
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Neonatal hypotonia, CNS demyelinatio...	OMIM:272200
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Spastic paraplegia, Babinski sign, Dysmetria, CNS hypomyelinat...	OMIM:618527
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul...	OMIM:614458
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Delayed peripheral myelination, Un...	ORPHA:464282
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Glo...	OMIM:619738
Supranuclear Palsy, Progressive, 1	Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Astro...	OMIM:601104
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic...	ORPHA:330050
Pontocerebellar Hypoplasia, Type 15	Delayed CNS myelination, Hydrocephalus, Spastic tetraplegia, Hypotonia, Hypertonia, Cerebellar hy...	OMIM:619302
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste...	ORPHA:98760
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Gait distu...	ORPHA:309162
Charcot-Marie-Tooth Disease, Type 4B3	Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding...	OMIM:615284
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Optic atrophy, Dysmetria, CN...	OMIM:619708
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus	ORPHA:139485
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy	OMIM:612437
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Delayed CNS myelination, Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesi...	OMIM:619653
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Paralysis	OMIM:616286
Aminoacylase 1 Deficiency	Cerebellar atrophy, Delayed CNS myelination, Cerebral cortical atrophy, Cerebral atrophy	OMIM:609924
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Gait ataxia, Cerebral atrophy, Dysmetria	ORPHA:320385
Glutaric Acidemia I	Rigidity, Hydrocephalus, Delayed myelination, Hypotonia, Spastic diplegia, Opisthotonus, Choreoat...	OMIM:231670
Peho-Like Syndrome	Cerebellar atrophy, Lissencephaly, Myoclonus, Pachygyria, Polymicrogyria	OMIM:617507
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Palatal tremor...	OMIM:203450
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Oromotor apraxia, Hemipar...	ORPHA:300573
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Hypotonia, Astrocytosis, Generalized hypotonia, Difficulty w...	OMIM:611087
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Inability to walk, Spastic tetraparesis, Dandy-Walker malformation	ORPHA:438178
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
3-Methylglutaconic Aciduria Type 1	Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia	ORPHA:67046
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Blepharonasofacial Malformation Syndrome	Facial palsy, Torsion dystonia	OMIM:110050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par...	OMIM:604320
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Imp...	ORPHA:98755
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Inability to walk	OMIM:616721
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Paresthesia, Spasticity,...	ORPHA:466794
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A...	ORPHA:909
Hemidystonia-Hemiatrophy Syndrome	Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dystonia	ORPHA:306741
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance	OMIM:611808
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Leukodystrophy, Hypomyelinating, 25	Gait ataxia, Delayed CNS myelination, Hypotonia, Dystonia	OMIM:620243
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Cerebral hypomyelination, Delayed myelination, Spasticity	OMIM:616683
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Developmental And Epileptic Encephalopathy 34	Inability to walk, Delayed CNS myelination, Abnormal pyramidal sign, Cerebral atrophy	OMIM:616645
Spinocerebellar Ataxia 36	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ...	OMIM:614153
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia	OMIM:614306
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Delayed CNS myelination, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypo...	OMIM:618877
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spastic parap...	ORPHA:329284
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Palatal tremor, Hydrocephalus, Abnormal pyramidal sign, Hyp...	ORPHA:363717
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Inability to walk, Spasticity	OMIM:617086
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Cerebellar atrophy, Cerebral atrophy, Progressive cerebellar ataxia, ...	ORPHA:263516
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coord...	ORPHA:309854
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Leukodystrophy, Childhood-Onset, Remitting	Leukodystrophy	OMIM:619864
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Axial hypotonia, Ataxia, Babinski sign, Optic atrophy, Hypotonia, Generalized...	OMIM:618226
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu...	ORPHA:101070
De Sanctis-Cacchione Syndrome	Ataxia, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atrophy, Babinski sign, Choreo...	OMIM:278800
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Ataxia, Inability to walk, Unsteady gait, Hypotonia, Spasticity	OMIM:620317
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia	OMIM:614820
Allan-Herndon-Dudley Syndrome	Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Delayed myelina...	ORPHA:59
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Dysplastic corpus callosum, Babinski sign, Spastic t...	OMIM:252650
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, D...	OMIM:609195
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f...	OMIM:616921
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration...	ORPHA:77299
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ...	ORPHA:276244
Charcot-Marie-Tooth Disease Type 1F	Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ataxia, Steppage gait,...	ORPHA:101085
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Leukodystrophy, Spast...	OMIM:619224
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:618384
Pontocerebellar Hypoplasia, Type 2C	Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia	OMIM:612390
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Chorea, Hypo...	OMIM:614254
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Cerebral corti...	OMIM:619922
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol...	OMIM:256850
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait	OMIM:619966
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Tetraplegia, A...	OMIM:616267
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Dystonia, Spasticity, Cerebral cortical atrophy	OMIM:617820
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Delayed CNS myelination, Perisylvian polymicrogyria, Eyelid myoclonus, Fronto...	OMIM:619606
Sandhoff Disease, Infantile Form	Exaggerated startle response, CNS hypomyelination, Myoclonus, Infantile axial hypotonia, Spastici...	ORPHA:309155
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Hyperkinetic movements, Ataxia	OMIM:271980
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Progres...	ORPHA:513436
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Paraparesis, Delayed my...	OMIM:617854
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Ataxia, Spastic tetraplegia, Tetraparesis, Dystonia, Infantile muscular hypotonia	ORPHA:263410
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Spastic Paraplegia Type 7	Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Impaired vibration sensation in t...	ORPHA:99013
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Facial hypotonia, Overweight, Babinski sign, Hypotonia, Spasti...	ORPHA:280763
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Intention tremor	OMIM:233400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:614455
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Spastic tetraplegia, Cerebral atrop...	ORPHA:1947
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidit...	ORPHA:442835
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia	OMIM:619150
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination, Small for gestational age, Hypotonia, Generalized hypotonia	OMIM:616733
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,...	OMIM:611523
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus	OMIM:618567
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Ce...	OMIM:617013
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Inability to walk, Cer...	OMIM:617481
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar vermis at...	OMIM:614575
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri...	ORPHA:98761
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Cerebral cortical hemia...	ORPHA:306669
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd...	OMIM:618049
Myoclonic-Atonic Epilepsy	Delayed CNS myelination, Ataxia, Tremor, Hypotonia, Eyelid myoclonus	OMIM:616421
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, S...	OMIM:615905
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Cerebellar hypoplasia, Leukodystrophy	OMIM:613163
Leigh Syndrome	Ataxia, Optic atrophy, Hypotonia, Gliosis, Generalized hypotonia, Dystonia, CNS demyelination, Sp...	OMIM:256000
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi...	ORPHA:401866
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Diffuse demyelination of the cerebral white matter, Cerebellar hypoplasia, Sp...	ORPHA:168486
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance	OMIM:618141
Familial Paroxysmal Ataxia	Hemiplegia, Torticollis, Ataxia, Cerebellar vermis atrophy	ORPHA:97
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Cerebral at...	OMIM:610127
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Peripheral axonal neuropathy, Incoordination, Ataxia, Episodic generalized hypotonia, Optic atrop...	OMIM:601338
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si...	OMIM:616505
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Dystonia, Spasticity	OMIM:614249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria	OMIM:618098
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Cerebellar calcifications, Parkinsonism, Rigidity, Babinski sign, Limb atax...	OMIM:618824
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Optic atrophy, Hypotonia, Hypertonia, Leukodystrophy, Dystonia, Neonatal hypotonia...	OMIM:264470
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Delayed CNS myelination, Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:620094
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Axonal degeneration	OMIM:618138
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation	OMIM:615010
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Delayed CNS myelination, Simplified gyral pattern, Cerebral atrophy, Myoclonus	OMIM:619609
Cach Syndrome	Cerebellar atrophy, Dysmyelinating leukodystrophy, Truncal ataxia, Cerebral atrophy, Dysmetria, L...	ORPHA:135
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta...	ORPHA:454887
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Simplified gyral pattern, Hypertonia, Cerebellar hypoplasia, CNS hypomyelination	OMIM:618622
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor functi...	OMIM:615159
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia, Generalized hypotonia	OMIM:619099
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Cerebral atrophy, Tongue fasciculations, Ce...	OMIM:618170
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk...	ORPHA:101150
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy, Ataxia, Dystonia	ORPHA:1171
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Generalized hypotonia, Dystonia	OMIM:617836
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Gait disturbance	ORPHA:85317
Aicardi-Goutieres Syndrome 3	Delayed myelination, Hypotonia, Generalized hypotonia, Dystonia, Spasticity	OMIM:610329
Peroxisome Biogenesis Disorder 11A (Zellweger)	CNS hypomyelination, Failure to thrive, Severe muscular hypotonia, Infantile muscular hypotonia	OMIM:614883
Intellectual Developmental Disorder, X-Linked 111	Cerebral palsy, Corpus callosum atrophy, Unsteady gait, Hippocampal atrophy, Dystonia, Spasticity	OMIM:301107
Sandhoff Disease	Exaggerated startle response, Ataxia, Impaired temperature sensation, Hypotonia, CNS hypomyelinat...	OMIM:268800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Spasticity	OMIM:618917
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo...	OMIM:611890
Developmental And Epileptic Encephalopathy 1	Delayed CNS myelination, Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoat...	OMIM:308350
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Developmental And Epileptic Encephalopathy 35	Delayed CNS myelination, Severe muscular hypotonia, Limb tremor, Cerebral atrophy, Brain atrophy	OMIM:616647
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar paralysis, Gai...	ORPHA:101006
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dyst...	OMIM:618238
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Cerebra...	ORPHA:544469
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Dysplastic corpus callosum, Abnormal pyramidal sign, Lissencephaly, Spasticit...	OMIM:614833
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Optic atrophy, Cataplexy, Tetraplegia, Motor axonal neuropathy, Progr...	ORPHA:496641
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:109150
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl...	ORPHA:206443
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Delayed CNS myelination, T...	OMIM:617710
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Spinocerebellar Ataxia Type 11	Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia	ORPHA:98767
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Inability to walk, Hypotonia, Cerebral atrophy, Tetraplegia, Abnormal CNS mye...	OMIM:619641
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract morphology, Gait ataxia, Ab...	ORPHA:356
Allan-Herndon-Dudley Syndrome	Delayed CNS myelination, Ataxia, Clonus, Inability to walk, Spastic paraplegia, Babinski sign, Sp...	OMIM:300523
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Hypotonia, Spastic t...	OMIM:609136
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Delayed CNS myelination, Diffuse cerebral atrophy, Clonus, Hypertonia, Spasticity, Failure to thrive	OMIM:613668
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph...	ORPHA:401768
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia	OMIM:104290
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Hippocampal atrophy, Limb hypertonia	OMIM:618922
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Multiple Mitochondrial Dysfunctions Syndrome 5	Delayed myelination, Leukodystrophy	OMIM:617613
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Generalized hypotonia, Impair...	ORPHA:466768
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia	OMIM:619071
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Inability to walk, Delayed CNS myelination, Broad-based gait, Spasticity	OMIM:619884
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Spasticity, Polymicrogyria	OMIM:301006
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Cerebral atrophy	OMIM:619690
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Cerebellar gliosis, Delayed myelination, Abnormal pyramidal sign, Hypotonia, CNS ...	ORPHA:3008
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho...	OMIM:500003
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Leukodystrophy, Dystonia, Spasticity	OMIM:610333
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Unsteady gait, Ataxia	OMIM:300861
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:193003
3-Methylglutaconic Aciduria, Type I	Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Fa...	OMIM:250950
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Delayed CNS myelina...	OMIM:616881
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
Foxg1 Syndrome	Inability to walk, Delayed myelination, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myocl...	ORPHA:561854
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity...	ORPHA:542310
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Cerebral atrophy, Cogwheel rigidity, Distal sensory impairment, Brady...	ORPHA:254886
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Spastic...	OMIM:275900
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia	OMIM:203740
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Han...	OMIM:162400
Episodic Ataxia, Type 9	Episodic ataxia, Cerebellar edema, Dystonia	OMIM:618924
Raynaud-Claes Syndrome	Lower limb spasticity, Hypotonia, Cerebral atrophy, Progressive cerebellar ataxia, Generalized hy...	OMIM:300114
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston...	OMIM:618218
Combined Oxidative Phosphorylation Deficiency 13	Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Leukodystrophy, Dystonia	OMIM:614932
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Babinski sign, Cerebral atrophy, Sensory ataxia, Gait ataxia, Atrophy/Degener...	OMIM:616192
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Spasticity, Cerebral atrophy	OMIM:618008
Autosomal Dominant Spastic Paraplegia Type 9B	Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Hypoton...	ORPHA:447757
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Delayed CNS myelination, Hypotonia, Cerebral atrophy, Difficulty walking, Spasticity, Failure to ...	OMIM:617393
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Cerebellar hyp...	OMIM:619556
Glutamine Deficiency, Congenital	Brain atrophy, Hypotonia, Generalized hypotonia, CNS hypomyelination	OMIM:610015
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Hypotonia, Spastic tetraplegia, Opisthotonus, Cerebral atrophy, Axonal ...	OMIM:252160
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus	OMIM:159900
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab...	OMIM:128100
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Axial hypotonia, Ataxia	OMIM:618951
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki...	OMIM:619725
Combined Oxidative Phosphorylation Deficiency 11	Severe muscular hypotonia, Delayed myelination, CNS hypomyelination, Tongue fasciculations, Gener...	OMIM:614922
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Inability to walk, Hypoto...	OMIM:218000
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
Developmental And Epileptic Encephalopathy 109	Delayed CNS myelination, Axial hypotonia, Hypotonia, Gait ataxia, Crouch gait, Myoclonus, Spastic...	OMIM:620145
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Ga...	ORPHA:500180
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Delayed CNS myelination, Corpus callosum atrophy, Inability to walk, Babinski...	OMIM:617339
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Ataxia, Spastic paraplegia, Optic atrophy, Spastic tetraplegia, Poor gross motor coordination, Un...	OMIM:245349
Spinocerebellar Ataxia, Autosomal Recessive 31	Axial hypotonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cerebellar hyp...	OMIM:619422
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, CNS hypomyelination	OMIM:619908
Dyschromatosis Symmetrica Hereditaria	Torsion dystonia	ORPHA:41
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,...	ORPHA:352649
Huntington Disease-Like 3	Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyra...	OMIM:604802
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Inability to walk, Chorea, Axial hypotonia, Dystonia	OMIM:618760
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Babinski sign, Gait disturbance, Myoclonus, Apraxia, CNS demyelination, Cerebral...	OMIM:618193
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Hypotonia, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonu...	OMIM:618497
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy	OMIM:614116
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ...	OMIM:618356
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance	OMIM:617166
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Fr...	ORPHA:99949
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Neonatal hypotonia...	ORPHA:457351
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Eyelid myoclonu...	ORPHA:2590
Friedreich Ataxia	Inability to walk, Chorea, Babinski sign, Impaired proprioception, Optic atrophy, Dysmetria, Gait...	ORPHA:95
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Atypical Rett Syndrome	Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclonus, Hypoto...	ORPHA:3095
Gillespie Syndrome	Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia	OMIM:206700
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Cerebral atrophy, Dystonia	OMIM:610181
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance...	OMIM:614898
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Optic atrophy, Hypotonia	OMIM:619470
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Hypotonia, Myoclonus, Brain atrophy, Leukodystrophy, Spasticity	OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 3	Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypoto...	OMIM:618224
Tangier Disease	Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensation, Facial dip...	OMIM:205400
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,...	OMIM:606703
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Chronic axonal neuropath...	ORPHA:88644
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Bradykinesia, Spastic...	OMIM:619052
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus...	ORPHA:477774
Adrenomyeloneuropathy	Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti...	ORPHA:139399
Harel-Yoon Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Axial hypotonia, Ataxia, Inability to walk, Opt...	OMIM:617183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Brain atrophy, Dystonia	OMIM:620359
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce...	ORPHA:85278
Pontocerebellar Hypoplasia, Type 9	Peripheral axonal neuropathy, Axial hypotonia, Facial hypotonia, Clonus, Hypoplasia of the pons, ...	OMIM:615809
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Atrophy/Dege...	OMIM:608027
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dyston...	ORPHA:319199
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Peripheral dysmyelination, Myoclonus...	OMIM:260565
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Dilated fourth ventricle, Impaired pain sensation, Chorea, Babinski...	OMIM:164400
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Simplified gyral...	OMIM:612389
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d...	ORPHA:391417
Alg2-Cdg	Cerebral hypomyelination	ORPHA:79326
Multiple Sclerosis, Susceptibility To	CNS demyelination, Spasticity, Incoordination, Paresthesia	OMIM:126200
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Oculomotor apraxia, Spasticity, Cere...	OMIM:614678
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetos...	OMIM:261640
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Axial hypotonia, Cerebral palsy, Chorea, Delayed myelination, Babinski sign, Choreoathetosis, Hyp...	OMIM:618451
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Delayed CNS myelination, Chorea, Hypotonia, Choreoathetosis, Athetosis, Failure to thrive	OMIM:309541
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Delayed CNS myelination, Abnormality of extrapyramidal motor function, Spasti...	OMIM:616299
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen...	OMIM:617384
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Cl...	ORPHA:98768
Infantile Convulsions And Choreoathetosis	Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia	ORPHA:31709
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Abnormal muscle tone, ...	OMIM:252150
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy...	OMIM:203700
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff...	OMIM:159950
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Postural tremor, Corpus callosum atrop...	ORPHA:412057
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Optic atrophy, Hypotonia, Abnormality of extrapyramidal mo...	OMIM:614739
Dystonia 15, Myoclonic	Myoclonus, Writer's cramp, Dystonia	OMIM:607488
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Huntington Disease-Like 3	Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Abnormal pyramidal s...	ORPHA:157946
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Delayed CNS myelination, Cerebellar vermis hypoplasia, Facial hypotonia, Broad-based gait, Optic ...	OMIM:617807
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia	OMIM:601042
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, H...	OMIM:618367
Spinocerebellar Ataxia 47	Ataxia, Chorea, Dysmetria, Spasticity, Cerebellar vermis atrophy	OMIM:617931
Intellectual Developmental Disorder, Autosomal Recessive 79	Delayed CNS myelination, Incoordination, Broad-based gait, Hypotonia, Gait ataxia, Intention tremor	OMIM:620393
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Leukodystrophy	OMIM:620269
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Developmental And Epileptic Encephalopathy 27	Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity	OMIM:616139
Combined Oxidative Phosphorylation Deficiency 53	Spasticity, Failure to thrive, Hypotonia, CNS hypomyelination	OMIM:619423
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Overweight, Inability to walk, Spastic paraplegia, Babinski sign, Hypertonia, Dyst...	OMIM:614066
Mitochondrial Complex I Deficiency, Nuclear Type 17	Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia	OMIM:618239
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus, Perivent...	ORPHA:352582
Orofaciodigital Syndrome Xvii	CNS hypomyelination	OMIM:617926
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Cerebellar hy...	OMIM:620327
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ...	ORPHA:431361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa...	OMIM:613153
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Axial hypotonia, Ataxia, Spastic tetraparesis, ...	ORPHA:35069
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Optic atrophy, Cerebral atrophy, Motor axonal neuropathy, Dystonia, Sensory ax...	ORPHA:457205
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Hypotonia	OMIM:619561
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli...	ORPHA:199343
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Delayed CNS myelination, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Cerebral cor...	OMIM:617668
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Choreoathetosis, Cerebral atrophy, Limb hypertonia	OMIM:618247
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Spastic tetraplegia, Dystonia	OMIM:618646
Leber Optic Atrophy And Dystonia	Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Chorea, Babinski sign, Abnormal pyra...	OMIM:607483
Episodic Ataxia Type 1	Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait	ORPHA:37612
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance...	ORPHA:289560
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Cerebral atrophy, Limb hypertonia	OMIM:617276
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, CNS hypomyelination,...	OMIM:619306
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Babinski sign, Limb ataxia, Gait ataxia, ...	OMIM:619259
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypotonia, Myoclonus, Cerebral cortica...	ORPHA:97229
Guanidinoacetate Methyltransferase Deficiency	Ataxia, Chorea, Hypotonia, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Pro...	ORPHA:382
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Facial palsy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaire...	OMIM:258450
Myoclonus, Intractable, Neonatal	Optic disc pallor, Delayed CNS myelination, Chorea, Hypotonia, Athetosis, Myoclonus, Dandy-Walker...	OMIM:617235
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Delayed CNS myelination, Inability to walk, Chorea, Hypotonia, Hemiparesis, ...	OMIM:618004
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chronic axonal neuropathy, Peripheral axonal neuropathy, Tremor, Chorea, Impa...	OMIM:606002
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C...	ORPHA:157846
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br...	ORPHA:13
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Hypotonia	OMIM:618328
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener...	OMIM:312170
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus	OMIM:608105
Dpagt1-Cdg	Ataxia, Diffuse optic disc pallor, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to...	ORPHA:86309
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Limb hypertonia	OMIM:612936
Pontocerebellar Hypoplasia, Type 2A	Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extr...	OMIM:277470
Leukodystrophy, Hypomyelinating, 4	Head titubation, Spastic paraplegia, Babinski sign, Hypotonia, Choreoathetosis, Progressive spast...	OMIM:612233
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Facial palsy, Temporal cortical atrophy, Gait disturbance, Tetraparesis, Brain atrophy, Dystonia,...	OMIM:167320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Scholte Syndrome	Cerebellar atrophy, Abnormal pyramidal sign	OMIM:300977
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Axial hypotonia, Cachexia, Hypotonia, Gait ataxia, Weight loss, Generalized hypotonia, Failure to...	OMIM:612075
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoplasia of the pons, Delayed myelination, CNS hypomyelination, Cerebellar hypoplasia, Infantil...	ORPHA:88618
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Axial hypotonia, Severe muscular hypotonia, Hypotonia, Myoclonus, Cerebral hypomyelination, Spast...	OMIM:612949
Fucosidosis	Hypotonia, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Dystonia, Hemiplegia, Fail...	OMIM:230000
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Generalized dystonia, Ataxia, Cerebral atrophy, Choreoathetosis, Hypertonia, Cer...	OMIM:272300
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Spastic paraplegia, B...	OMIM:606693
Mitochondrial Myopathy With Lactic Acidosis	Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity	OMIM:251950
Developmental And Epileptic Encephalopathy 72	Delayed CNS myelination, Axial hypotonia, Inability to walk, Cerebral atrophy, Hyperkinetic movem...	OMIM:618374
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Tremor, Inability to walk, Babinski sign, Optic atrophy, A...	ORPHA:52368
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Spastic parapleg...	OMIM:300055
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor	OMIM:613724
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Myoclonus, Dystonia, Failure to th...	OMIM:250620
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Axial hypotonia, Corpus callosum atrophy, Sudanophilic leukodystrophy, A...	OMIM:260600
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Hypotonia, Clumsines...	OMIM:615673
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Spastic tetraparesis	OMIM:618506
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Dystonia, Neuronal ...	ORPHA:683
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Paresthesia, Cerebellar vermis atrophy	OMIM:108500
Baralle-Macken Syndrome	Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy	OMIM:619255
Infantile Dystonia-Parkinsonism	Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign...	ORPHA:238455
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Hypotonia, Choreoathetosis, Gait d...	ORPHA:702
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atr...	ORPHA:79243
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, In...	ORPHA:139396
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysto...	OMIM:168601
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Progressive spastic paraparesis, Upper motor neur...	ORPHA:329308
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atrophy, Gait disturban...	OMIM:615838
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Dystonia, Oculomoto...	OMIM:618087
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer...	ORPHA:95433
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Delayed CNS myelination, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy,...	OMIM:615599
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Postural tremor, Ataxia, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebella...	ORPHA:504476
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Slender build	OMIM:613662
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,...	ORPHA:90117
Developmental And Epileptic Encephalopathy 6B	Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move...	OMIM:619317
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia...	OMIM:610217
Charcot-Marie-Tooth Disease And Deafness	Tremor, Distal sensory impairment, Axonal loss, Steppage gait, Gait disturbance	OMIM:118300
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abnormality of...	OMIM:600142
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Cerebral hypomyelination, Spasti...	ORPHA:79351
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Cerebral atrophy	OMIM:618729
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Hypotonia, Choreoathetosis, Dystoni...	OMIM:617664
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Ataxia, Inability to walk, Babinski sign, Cerebellar hypoplasia, Apraxia, Spa...	OMIM:616354
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Cog7-Cdg	Cerebellar atrophy, Subcortical cerebral atrophy, Brain atrophy	ORPHA:79333
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Spasticity, Cerebellar cortical atrophy	OMIM:248800
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Hypertonia, Cerebral atrophy	OMIM:614654
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Hypotonia, Dystonia	ORPHA:139406
Developmental And Epileptic Encephalopathy 53	Hypotonia, Spastic tetraplegia, Dystonia	OMIM:617389
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy	OMIM:618302
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Optic atrophy, Myoclonus, Truncal ataxia, Neonatal hypotonia, Sp...	OMIM:252011
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Generalized hypotonia, Progressive spasticity, ...	ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia	OMIM:618587
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis...	OMIM:245348
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ...	ORPHA:98805
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Gait ataxia, Hyperkineti...	OMIM:620089
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,...	OMIM:616672
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Cerebellar ...	OMIM:214150
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Small for gestational age, Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, ...	ORPHA:70594
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga...	ORPHA:216866
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Joubert Syndrome 33	Oculomotor apraxia, Delayed CNS myelination, Ataxia	OMIM:617767
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Progressive cerebellar ataxia, Babinski sign, Clonus	OMIM:618868
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Unsteady gait, Cerebral atrophy, Gait disturbance, Myoclonus, Mixed demyelina...	ORPHA:412217
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance	ORPHA:99014
Combined Oxidative Phosphorylation Defect Type 13	Axial hypotonia, Delayed myelination, Choreoathetosis, Lower limb hypertonia, Generalized hypoton...	ORPHA:319514
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ...	ORPHA:228346
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Pontocerebellar Hypoplasia, Type 1F	Hypoplasia of the pons, Delayed CNS myelination, Cerebellar hypoplasia, Cerebral atrophy	OMIM:619304
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Axial hypotonia, Clonus, Rigidity, Babinski sign, Optic atrophy, Hyperto...	OMIM:614498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Pachygyria, Tip-toe gait, Difficulty walking, Frequent falls, Cerebellar cyst	OMIM:606612
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Hypertonia, Dystonia, Failure to thrive, Infantile muscular hypotonia	ORPHA:26792
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai...	OMIM:607822
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Myoclonus, Cerebral atrophy	OMIM:619060
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized...	OMIM:233910
Jaberi-Elahi Syndrome	Appendicular spasticity, Failure to thrive, Broad-based gait, Tremor, Inability to walk, Optic at...	OMIM:617988
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination, Ch...	ORPHA:255210
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Hydrocephalus, Opti...	ORPHA:79282
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Progressive spastic paraparesis, Spastic ataxia, Spastic tetraparesis	ORPHA:496756
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Dec...	ORPHA:309256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Type II liss...	OMIM:615181
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Small for gestational age, Hypertonia, Myoclonus, Abnormal myelination,...	ORPHA:289266
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Slurred speech, Ataxia, Dystonia	OMIM:230650
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia	OMIM:611182
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Pain insensitivity, Axial hypotonia, Delayed CNS myelination, Optic atrophy, H...	OMIM:614388
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Brain atrophy, Generalized hyp...	OMIM:616277
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Dense calcifications in the cerebellar dentate n...	ORPHA:90324
Galloway-Mowat Syndrome 8	Abnormal cerebellum morphology, Delayed CNS myelination, Cerebral cortical atrophy, Brain atrophy	OMIM:618349
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Hypotonia, Spas...	ORPHA:391428
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Optic disc pallor, Axial hypotonia, Cerebral atrophy, Leukodystrophy, Dy...	OMIM:617762
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Small for gestational age, Loss of ability to walk in early childhood, Inability to walk, Hypoton...	OMIM:612073
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Abnormal myelination	ORPHA:352682
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ...	OMIM:272750
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Pulmonary Blastoma	Weight loss	ORPHA:64741
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Ataxia, Overweight, ...	OMIM:619475
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Isaacs Syndrome	Weight loss, Fasciculations, Distal sensory impairment	ORPHA:84142
Mitochondrial Complex I Deficiency, Nuclear Type 23	Hypotonia, Generalized hypotonia, Dystonia	OMIM:618244
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Brain atrophy, Cerebral atrophy, Abnormal myelination	ORPHA:85179
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin...	ORPHA:79264
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I...	OMIM:612736
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Delayed myeli...	ORPHA:543470
Superficial Siderosis	Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t...	ORPHA:247245
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Patent ductus arteriosus, Cerebral atrophy	OMIM:619797
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Cerebral atrophy, Tongue fasciculations, Fasciculations, Spasticity, Cerebral...	OMIM:618065
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Hypotonia, Truncal ataxia, Cerebellar hypoplasia, Generalized hypotonia, Dystonia, Failure to thr...	OMIM:614407
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait	OMIM:301029
Cog8-Cdg	Cerebellar atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Delayed CNS myelination, Oromotor apraxia, Spasticity	ORPHA:466934
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Gait disturbance, Myoclonus, Infantile muscular hypotonia, Oculomotor apraxia, Cerebral h...	ORPHA:247262
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Involuntary movements, Babinski sign, Simplified gyral pattern, Cerebral atro...	OMIM:618397
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Tremor, Hypotonia, Dysmetria, Tr...	OMIM:220111
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Generalized hypot...	OMIM:619092
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Facial palsy, Inability to walk, Hypotonia, Astrocytosis, Pontocerebellar atrophy, Decreased body...	ORPHA:258
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Marbach-Rustad Progeroid Syndrome	CNS hypomyelination, Intention tremor	OMIM:619322
Combined Oxidative Phosphorylation Deficiency 35	Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:617873
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Ataxia, Obesity, Dystonia, Oculomotor apraxia	ORPHA:459033
Pyruvate Carboxylase Deficiency	Athetosis, Clonus, Hypotonia, Leukodystrophy	OMIM:266150
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Obesity, Progressive spastic paraplegia	ORPHA:521390
Marchiafava-Bignami Disease	Ataxia, Facial palsy, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait disturban...	ORPHA:221074
Spinocerebellar Ataxia Type 6	Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ...	ORPHA:98758
Srd5A3-Cdg	Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Abnormal cerebellar vermis morphology	ORPHA:324737
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls	OMIM:618416
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Optic atrophy, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Generali...	ORPHA:309263
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Inability to walk, Waddling gait	OMIM:616269
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr...	OMIM:618249
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Hypotonia, Spastic tetraplegia,...	OMIM:619847
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Hypotonia, Dysdiadochokinesis, Peripheral hypomyelination, Generalize...	OMIM:612780
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Hypotonia, ...	OMIM:617302
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Spasti...	ORPHA:70472
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Generalized hypo...	ORPHA:3208
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:613155
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Spastic paraplegia, Hemiparesis, Gait distur...	ORPHA:98673
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Delay...	ORPHA:572798
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hypotonia, Hyperkinetic movements, Gliosis, Upper limb spasticity, Gait distu...	ORPHA:457240
Schilder Disease	Ankle clonus, CNS demyelination, Ataxia	ORPHA:59298
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Waardenburg Syndrome, Type 4A	Ataxia, Hypotonia, Leukodystrophy, Spastic paraparesis	OMIM:277580
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Delayed CNS myelination, Broad-based gait, Small for gestational age, Failure...	OMIM:618891
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Tetraparesis, Generalized hypotonia, Dystonia	OMIM:618230
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthotonus, Tetraplegia, Hyperto...	OMIM:619272
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Axial hypotonia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gai...	OMIM:618321
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb...	ORPHA:765
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Titubat...	ORPHA:225147
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati...	ORPHA:79244
Secondary Syringomyelia	Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Progressive cerebellar ataxia, Pseudobul...	ORPHA:99857
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Hypotonia, Myoclonus	OMIM:616366
16P11.2P12.2 Microduplication Syndrome	Dystonia	ORPHA:261204
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Cerebellar vermis atrophy	OMIM:618347
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Hypotonia, Dystonia	OMIM:619157
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Delayed CNS myelination, Clonus, Hypotonia, Brain atrophy, Failure to thrive, Cerebral cortical a...	OMIM:620240
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Babinski sign, Hypoplasia of the ventral pons,...	ORPHA:2524
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,...	ORPHA:320375
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressive spastic quadriplegia, Progressive g...	ORPHA:309271
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy...	ORPHA:314404
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Ataxia, Clumsiness, Subcortical cerebral atrophy, Cerebral cortical atrophy	ORPHA:309288
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonu...	OMIM:213700
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize...	ORPHA:36387
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance	OMIM:603472
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Delayed CNS myelination, Global brain atrophy	OMIM:608776
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Delayed CNS myelination, Partial agenesis of the corpus callosum, Spasticity, Abnormal dentate nu...	OMIM:619517
Developmental And Epileptic Encephalopathy 84	Delayed CNS myelination, Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypoto...	OMIM:618792
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Spastic paraplegia, Babinsk...	OMIM:616586
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy, CNS hypomyelin...	ORPHA:268261
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Involuntary movements, Inability to walk, Ch...	OMIM:617804
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t...	ORPHA:83629
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl...	ORPHA:3240
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Inability to walk, Optic atrophy, Vocal cord paralysis, Distal sensory impairment, Poor f...	ORPHA:99956
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Delayed CNS myelination	OMIM:619835
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Delayed CNS myelination	OMIM:618832
Dihydrolipoamide Dehydrogenase Deficiency	Ataxia, Hypotonia, Dystonia	OMIM:246900
Stt3A-Cdg	Cerebellar atrophy	ORPHA:370921
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Torticollis, Ataxia, Limb hypertonia	OMIM:618547
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Cerebral cortical atrophy, Global brain ...	OMIM:617802
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Writer's cramp, Impaired vibration sensation in the lower limbs, Limb fasciculations, Steppage ga...	ORPHA:324442
Familial Or Sporadic Hemiplegic Migraine	Cerebellar atrophy, Involuntary movements, Impaired temperature sensation, Dissociated sensory lo...	ORPHA:569
Crome Syndrome	Renal tubular epithelial necrosis, Cerebellar dysplasia	OMIM:218900
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Small for gestational age, Hypotonia, Cerebr...	OMIM:615471
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Delayed CNS myelination	OMIM:618541
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia	ORPHA:289916
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia	OMIM:615919
Craniosynostosis 6	Cerebellar atrophy, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:616602
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cerebellar vermis hypoplasia, Abnormal pons morphology, Leukodystrophy, Polymicrogyria, Agyria, C...	ORPHA:370997
Leukodystrophy, Hypomyelinating, 24	Peripheral axonal neuropathy, Tongue fasciculations, Cerebral atrophy, Leukodystrophy	OMIM:619851
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Spa...	OMIM:601162
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia	OMIM:617106
Stt3B-Cdg	Cerebellar atrophy	ORPHA:370924
Tuberculosis	Weight loss	ORPHA:3389
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Spasticity, Spastic gait, Gait ataxia	ORPHA:496790
Filippi Syndrome	Cerebellar atrophy, Decreased body weight, Optic atrophy, Dystonia	OMIM:272440
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Hypotonia, Tetraplegia, Dystonia, ...	ORPHA:254913
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign...	ORPHA:98808
Snijders Blok-Fisher Syndrome	Delayed CNS myelination, Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, ...	OMIM:618604
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Inability to walk, Delayed myelination, Perisylvian polymicrogyria, U...	OMIM:618443
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di...	ORPHA:168491
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination	OMIM:611555
Developmental And Epileptic Encephalopathy 46	Axial hypotonia, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia	OMIM:617162
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ...	ORPHA:646
Dpm1-Cdg	Cerebellar atrophy, Ataxia, Delayed myelination, Cerebral atrophy, Pontocerebellar atrophy, Abnor...	ORPHA:79322
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Delayed CNS myelination, Patent ductus arteriosus, Cerebral atrophy, Perivent...	OMIM:618659
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Warburg Micro Syndrome 4	Cerebellar atrophy, Inability to walk, Babinski sign, Perisylvian polymicrogyria, Spastic tetrapl...	OMIM:615663
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr...	ORPHA:1192
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Hyperkinetic movements, Trun...	OMIM:300243
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy	OMIM:615597
Canavan Disease	Optic atrophy, Hypotonia, Abnormal pyramidal sign, Opisthotonus, Brain atrophy, CNS demyelination	OMIM:271900
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical atrophy	OMIM:312750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Ap...	OMIM:616801
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Delayed myelination, Hypotonia, Hypertonia, Ga...	OMIM:300352
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Spasticity, Ataxia, Cataplexy	OMIM:604121
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Abnormal pyramidal sign, Cerebellar hypoplasia, Dystonia, Demyelinating peripheral neurop...	ORPHA:453533
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy	ORPHA:79327
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Optic disc pallor, Involuntary movements, Corpus callosum atrophy, Abnorma...	ORPHA:565624
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Inability to walk, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Sp...	OMIM:613744
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Cerebellar hypoplasia, Delayed CNS myelination, Cerebral cortical atrophy	OMIM:617763
Classic Galactosemia	Speech apraxia, Incoordination, Postural tremor, Ataxia, Clumsiness, Gait disturbance, Gait imbal...	ORPHA:79239
Leigh Syndrome	Cerebellar atrophy, Abnormal dentate nucleus morphology, Dystonia, Ataxia, Involuntary movements,...	ORPHA:506
Cimdag Syndrome	Cerebellar vermis hypoplasia, Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atroph...	OMIM:619273
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive	ORPHA:79312
Partington Syndrome	Limb dystonia, Lower limb spasticity, Focal dystonia	OMIM:309510
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Cachexia, Decreased number of large peripheral myelinated nerve fib...	ORPHA:298
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban...	ORPHA:93256
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa...	ORPHA:445038
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki...	ORPHA:171695
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Trichothiodystrophy 8, Nonphotosensitive	Delayed CNS myelination, Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spastici...	OMIM:619691
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Peripheral axonal neuropathy, Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthe...	OMIM:607459
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Slurred speech...	ORPHA:357058
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertonia, Myoclonus, S...	OMIM:615851
Continuous Spikes And Waves During Sleep	Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia	ORPHA:725
Alg3-Cdg	Spastic tetraparesis, Hypoplasia of the pons, Hypotonia, Neural tube defect, Subcortical cerebral...	ORPHA:79321
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Severe muscular hypotonia, Ataxia, ...	ORPHA:25
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impai...	ORPHA:2388
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Optic atrophy, Limb ataxia, Chor...	OMIM:617595
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Spasticity	OMIM:618718
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Facial hypotonia, Small for gestatio...	ORPHA:404454
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Spasticity, Generalized dystonia, Cerebral atrophy	OMIM:618235
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Delayed myelination, Hypertonia, Spasticity	ORPHA:544503
Dystonia 28	Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Arm dystonia, Oromandib...	ORPHA:589618
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Head titubation, Hypotonia, Truncal ataxia, Failure to thrive	ORPHA:88639
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Generalized hypot...	OMIM:614299
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Delayed CNS myelination, Inability to walk, Hypotonia, Brain atrophy	OMIM:620114
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Clonus, Hypotonia, Hypertonia, Brain atrophy, Myoclonic spasms, Cerebral h...	ORPHA:447997
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Wieacker-Wolff Syndrome	Facial palsy, Delayed myelination, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, ...	OMIM:314580
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Hypertonia, Spastic tetraparesis, Cerebral atrophy	OMIM:601110
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy	ORPHA:3085
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A...	OMIM:234200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli...	ORPHA:168563
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Hypotonia, Cervical myelopat...	OMIM:617186
Oculopharyngodistal Myopathy	Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis	ORPHA:98897
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Cerebral atrophy, Brain atrophy, Limb hypertonia	OMIM:616875
Leber Optic Atrophy	Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Dystonia	OMIM:535000
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ...	OMIM:607426
Multiple Mitochondrial Dysfunctions Syndrome 3	Severe muscular hypotonia, Optic atrophy, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Leuko...	OMIM:615330
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Abnormal CNS myelination, Ataxia	OMIM:610651
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Tremor, Obesity, Spastic diplegia, Generalized hypotonia, Dystonia	ORPHA:480907
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Supranuclear Palsy, Progressive, 2	Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Idiopathic Achalasia	Weight loss	ORPHA:930
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	OMIM:619616
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Optic atrophy, Hypotonia, Pontocerebellar atrophy, Generalized hypotonia, Failure...	OMIM:608799
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal gan...	OMIM:604377
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H...	OMIM:616271
Frontal Encephalocele	Leukodystrophy	ORPHA:1931
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a...	OMIM:614946
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Simplified gyral pattern, Gait ataxia, Polymicrogyria, Cerebellar vermis atrophy	OMIM:300354
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Dystonia, Parkinsonism, Rigidity, Optic atrophy, Leg dystonia, Slurred spe...	ORPHA:157850
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Axial hypotonia, Hypoplasia of the pons, Optic atrophy, Cerebellar hypop...	OMIM:617669
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Chorea, Generalized hypotonia, Dystonia	OMIM:613970
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Aicardi-Goutieres Syndrome 1	Axial hypotonia, Cerebellar calcifications, Inability to walk, Cerebral atrophy, Abnormality of e...	OMIM:225750
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Gait ata...	OMIM:616878
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Cerebral atrophy, Hypotonia, Generalized hypotonia, Dystonia	OMIM:617268
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Babinski sign, Abnormal pyramid...	OMIM:248500
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Truncal ataxia, Brain atrophy,...	ORPHA:263487
Intestinal Dysmotility Syndrome	Failure to thrive, Hypotonia, Weight loss	OMIM:620045
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy	OMIM:615084
Rasmussen Subacute Encephalitis	Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Subcortical cerebral atrophy...	ORPHA:1929
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia	OMIM:617101
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Cerebral atrophy	OMIM:268020
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Partial absence of cerebellar vermis, Unsteady gait, Patent ductus arteriosus...	ORPHA:329224
Cockayne Syndrome B	Failure to thrive, Ataxia, Cerebellar calcifications, Abnormal peripheral myelination, Small for ...	OMIM:133540
Triokinase And Fmn Cyclase Deficiency Syndrome	Delayed CNS myelination, Cerebellar hypoplasia, Broad-based gait	OMIM:618805
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling...	ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Optic atrophy, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614702
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, Cerebral atrophy, Dysmetr...	ORPHA:94147
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis	OMIM:619603
Cockayne Syndrome A	Cerebellar atrophy, Failure to thrive, Ataxia, Abnormal peripheral myelination, Tremor, Optic atr...	OMIM:216400
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypotonia, CNS hypomyelination	OMIM:614501
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia	OMIM:619025
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Leukodystrophy, Limb ataxia, Generalized hypotonia, Truncal ataxia	OMIM:619051
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypotonia, Weight loss, Abnor...	ORPHA:354
Partington Syndrome	Lower limb spasticity, Gait disturbance, Limb dystonia	ORPHA:94083
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, ...	OMIM:216360
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers, Hypoton...	OMIM:201300
Bilateral Polymicrogyria	Cerebellar atrophy, 4-layered lissencephaly, Spastic tetraparesis, Spastic hemiparesis, Perisylvi...	ORPHA:268940
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agenesis of the corpus callosu...	OMIM:615948
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Axial hypot...	OMIM:615574
Alg8-Cdg	Ataxia, Small for gestational age, Optic atrophy, Hypotonia, Leukodystrophy, Failure to thrive, C...	ORPHA:79325
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Pseudobulbar pa...	OMIM:607371
Neurodevelopmental Disorder With Spasticity And Poor Growth	Delayed CNS myelination, Axial hypotonia, Generalized dystonia, Ataxia, Clonus, Babinski sign, Op...	OMIM:618076
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Hypoplasia of the pons, Inability to walk, C...	OMIM:618143
Fatal Familial Insomnia	Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss	OMIM:600072
Aicardi-Goutieres Syndrome 9	Delayed CNS myelination, Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegi...	OMIM:619487
Chromosome 8Q21.11 Deletion Syndrome	Hypotonia, CNS hypomyelination	OMIM:614230
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram...	ORPHA:306682
Slc35A2-Cdg	Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Delayed myelination, Cerebral atroph...	ORPHA:356961
Bilateral Generalized Polymicrogyria	Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Eyelid myoclonus, Dystonia, Spasticity, ...	ORPHA:208447
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Delayed CNS myelination, Cerebellar vermis hypoplasia, Cerebral atrophy, Cere...	OMIM:618590
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat...	OMIM:619574
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Babinski sign, Cerebral atrophy, Ankle clon...	OMIM:615398
Congenital Disorder Of Glycosylation, Type Ii	Delayed CNS myelination, Decreased body weight, Generalized hypotonia, Dystonia	OMIM:607906
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Delayed myelination, Optic atrophy, Hypotonia, Progressiv...	ORPHA:521426
Intellectual Developmental Disorder, Autosomal Dominant 43	Ataxia, Hypotonia, Dystonia, Frontal cortical atrophy, Failure to thrive	OMIM:616977
Flynn-Aird Syndrome	Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation	ORPHA:2047
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dystonia	OMIM:304700
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in...	ORPHA:477817
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus, Dystonia	ORPHA:163921
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abno...	ORPHA:97349
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Axial hypotonia, Hypoplasia of the pons, Optic atrophy, Vocal cord paralysis, Increased cup-to-di...	ORPHA:500144
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Cerebellar hypo...	OMIM:617751
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent...	OMIM:254900
D-Glyceric Aciduria	Delayed CNS myelination, Axial hypotonia, Optic nerve hypoplasia, Hypotonia, Spastic tetraplegia,...	OMIM:220120
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Hypotonia, Cachexia	ORPHA:157973
Xeroderma Pigmentosum, Complementation Group F	Tremor, Ataxia, Brain atrophy, Decreased body weight	OMIM:278760
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Gaucher Disease Type 2	Spasticity, Dystonia	ORPHA:77260
Niemann-Pick Disease, Type C1	Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dystonia, Cataplexy, Spasticity, Neuronal ...	OMIM:257220
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Impaired vibratio...	ORPHA:447753
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Poor gross motor coordination, Hypotonia, Cerebral atrophy, Dystonia	ORPHA:439218
Aicardi-Goutieres Syndrome 5	Spasticity, Axial hypotonia, Leukodystrophy	OMIM:612952
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Wiedemann-Rautenstrauch Syndrome	Ataxia, Action tremor, Tremor, Hydrocephalus, Optic atrophy, CNS hypomyelination, Chiari type I m...	ORPHA:3455
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic...	OMIM:616840
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Cachexia, Hydrocephalus, Optic atrophy, Spasticity, Demyelinating peripheral neuropathy	ORPHA:220295
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Small for gestational age, Optic atrophy, Cerebellar hypoplasia, Generalized hyp...	OMIM:618253
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Parkinsonism, D...	OMIM:200150
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Inability to w...	ORPHA:300570
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypotonia, Spastic tetraplegia, Cerebral atrophy, Myoclonus, Leukodystrophy, Generalized hypotonia	OMIM:614462
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona...	ORPHA:163681
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Truncal ataxia, Limb ataxi...	OMIM:105210
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Opisthotonus	OMIM:619685
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Delayed myelination, Obesity, Myoclonus, Gait imbalance, Infant...	ORPHA:98794
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Lim...	OMIM:608643
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy	ORPHA:352447
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Delayed CNS myelination, Axial hypotonia, Spastic paraplegia, Optic nerve dysplasia, Obesity, Cer...	OMIM:617296
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Cerebral hypomyelination, Failur...	ORPHA:513456
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Pain insensitivity, Broad-based gait, Ata...	OMIM:256810
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Limb hypert...	ORPHA:480898
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:617164
Galactose Epimerase Deficiency	Hypotonia, Weight loss	ORPHA:79238
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Axial hypotonia, Dystonia	ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 12	Delayed CNS myelination, Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradyki...	OMIM:614924
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal po...	OMIM:619103
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebellar vermis hypoplasia, Small for gestational age, Hypotonia, Spastic tetraplegia, Hyperton...	OMIM:620024
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Hypotonia, Abnormal CNS myelination, Myoclonus, Generalized ...	OMIM:615816
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Delayed myelination, Choreoathetosis, Myocl...	ORPHA:1934
Rett Syndrome, Congenital Variant	Chorea, Delayed myelination, Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spas...	OMIM:613454
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari typ...	ORPHA:221098
Lethal Ataxia With Deafness And Optic Atrophy	Axial hypotonia, Ataxia, Severe demyelination of the white matter, Optic atrophy, Spinal cord pos...	ORPHA:1187
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal dystonia, F...	ORPHA:199351
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Clonus, Involuntary movements, Babinski sign, Optic atrophy, Hypertonia, ...	ORPHA:480864
Neuroblastoma, Susceptibility To, 1	Ataxia, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma	OMIM:256700
Sjogren-Larsson Syndrome	CNS demyelination, Spasticity, Spastic paraparesis	OMIM:270200
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti...	OMIM:207800
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Dysto...	ORPHA:66634
Waardenburg Syndrome, Type 2E	Cerebral hypomyelination, Hypertonia, Axial hypotonia	OMIM:611584
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Optic atrophy, Spastic diplegia, Opist...	ORPHA:206436
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Patent ductus arteriosus, Abnormal cortical gyration, Cerebral atrophy	OMIM:614576
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Combined Oxidative Phosphorylation Deficiency 4	Neonatal hypotonia, Spasticity, Leukodystrophy, Opisthotonus	OMIM:610678
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Cadds	Cerebellar atrophy	ORPHA:369942
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Hypotonia, Cachexia	ORPHA:1216
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis, Tremor, Paucity of anter...	ORPHA:79139
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Spasticity, Ataxia, Dystonia	OMIM:617341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Leukodystrophy, Polymicrogyria, Agyria, Cerebellar cyst	OMIM:616538
Holocarboxylase Synthetase Deficiency	Ataxia, Hypotonia, Weight loss	ORPHA:79242
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct...	OMIM:612199
Combined Oxidative Phosphorylation Deficiency 57	Small for gestational age, Hypotonia, Cerebral atrophy, Myoclonus, Dystonia	OMIM:620167
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Spasticity	ORPHA:485421
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy	OMIM:616430
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Spastic tetraparesis, Dystonia	ORPHA:404451
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete...	ORPHA:468631
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia	OMIM:618829
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Cerebral atrophy	OMIM:616266
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Rett Syndrome	Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Dystonia, Fa...	ORPHA:778
Triosephosphate Isomerase Deficiency	Optic disc pallor, Tremor, Unsteady gait, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dys...	OMIM:615512
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,...	ORPHA:502423
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Delayed CNS myelination, Hypotonia, Dystonia	OMIM:614105
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypotonia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia	OMIM:618222
Mevalonic Aciduria	Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Cerebral atrophy, Progressive cerebell...	OMIM:610377
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Delayed CNS myelination, Axial hypotonia, Ataxia, Hypotonia, Cerebra...	OMIM:616084
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Global brain atr...	OMIM:618426
Brain-Lung-Thyroid Syndrome	Apraxia, Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Fall...	ORPHA:209905
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Cerebral cortical atrophy	OMIM:277410
Siddiqi Syndrome	Limb dystonia	OMIM:618635
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Delayed CNS myelination, Inability to walk, Truncal ataxia, Global brain atrophy	OMIM:620066
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Spasticity, Pallidal degeneration, Dystonia	OMIM:607236
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Hypotonia, Gait distu...	ORPHA:220497
Neuromuscular Oculoauditory Syndrome	Unsteady gait, Peripheral hypomyelination, Generalized hypotonia, Sensory axonal neuropathy	OMIM:618733
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Obesity, Chiari type I malformation, Choreoathetosis, Dystonia, Failure to thrive...	ORPHA:261197
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Spastic paraplegia, Failure to thrive in infancy	OMIM:619026
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Chronic Hiccup	Weight loss	ORPHA:396
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Hypotonia, Gait distu...	ORPHA:475
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Ataxia, Hypotonia, Myoclonus, Dystonia	OMIM:619167
Developmental And Epileptic Encephalopathy 38	Dystonia, Axial hypotonia, Ataxia, Limb hypertonia	OMIM:617020
Propionic Acidemia	Axial hypotonia, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia	OMIM:606054
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Delayed myelina...	OMIM:615846
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty...	OMIM:610978
Hermansky-Pudlak Syndrome 10	Delayed CNS myelination, Axial hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia	OMIM:617050
Angelman Syndrome	Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Tremor, Inability to walk, ...	ORPHA:72
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Axial hypotonia, Hypoplasia of the pons, Spast...	OMIM:619909
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Spasticity, Pachyg...	OMIM:617729
Monosomy 18Q	Astrocytoma, Hydrocephalus, Poor coordination, Choreoathetosis, Cerebellar hypoplasia, Abnormal m...	ORPHA:1600
Lynch Syndrome	Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Weight loss,...	ORPHA:144
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Cerebral atrophy, Limb hypertonia	OMIM:620306
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Simplified gyral pattern, Dysmetria, Dysdiadochokinesis, Gait disturban...	OMIM:616541
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Axial hypotonia, Ataxia, Small for gestational age, Optic atrophy, Hypotonia,...	OMIM:251300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Myoclonus, Tru...	OMIM:301072
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
White-Sutton Syndrome	Cerebellar atrophy, Delayed CNS myelination, Incoordination, Hypoplasia of the pons, Delayed myel...	ORPHA:468678
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Tetraparesis, Spasticity	OMIM:619124
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia	ORPHA:1933
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax...	ORPHA:438216
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cerebral dysmyelination, ...	ORPHA:191
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal cerebellum morphology, Diaph...	ORPHA:83597
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dystonia...	OMIM:620358
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypotonia, Dysmetria	OMIM:615578
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spastic diplegia, Gait disturba...	OMIM:300966
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Hypotonia, Cachexia	ORPHA:42
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Axial hypotonia, Cachexia, Hypotonia, Spastic tetraplegia, Severe failure to thrive, Hyperesthesi...	ORPHA:371364
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Hypotonia, Cerebral atrophy, Decreased body weight, CNS demyelination	OMIM:614886
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Chorea, Delayed myelination, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dyst...	ORPHA:522077
Familial Colorectal Cancer Type X	Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Weight loss,...	ORPHA:440437
Mcleod Syndrome	Chorea, Motor axonal neuropathy, Impaired vibration sensation at ankles, Dystonia	OMIM:300842
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno...	ORPHA:51
Biotinidase Deficiency	Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Ataxia	OMIM:253260
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral cortical at...	OMIM:616737
Gabriele-De Vries Syndrome	Waddling gait, Delayed CNS myelination, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia	OMIM:617557
Peho Syndrome	Cerebellar atrophy, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem	ORPHA:2836
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Alternating Hemiplegia Of Childhood	Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Hypotonia, Gait distu...	ORPHA:220493
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Tremor, R...	ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Spasticity, Cerebellar hypoplasia	OMIM:618329
Metachromatic Leukodystrophy	Dystonia, Ataxia, Incoordination, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, P...	ORPHA:512
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Ataxia, Demyelinating peripheral neuropathy, Dysmetria	OMIM:616263
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Hypotonia, Tetraplegia, Hypertonia, Generalized hypotonia, Hemiplegia, CNS demyelination,...	OMIM:603553
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Cerebral palsy, Inability to walk, Delayed myelination, Hypotonia, Myoclonus, Hemi...	OMIM:616973
Pseudo-Torch Syndrome 1	Axial hypotonia, Hypotonia, Cerebellar hypoplasia, Dystonia, Spasticity, Failure to thrive	OMIM:251290
Bickerstaff Brainstem Encephalitis	Ataxia, Facial palsy, Dysesthesia, Babinski sign, Impaired proprioception, Abnormal pyramidal sig...	ORPHA:79138
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Delayed CNS myelination, Tremor, Babinski sign, Hypotonia, Hypertonia, Brain atrophy, Spasticity,...	OMIM:616539
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Abnormal pons morphology, Dystonia	ORPHA:1320
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p...	ORPHA:98889
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Tremor, Patent ductus arteriosus, Cerebral atrophy, Choreoathetosis, Spasticity	OMIM:614080
Isolated Complex I Deficiency	Optic disc pallor, Ataxia, Optic neuropathy, Hypotonia, Leukodystrophy, Failure to thrive	ORPHA:2609
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Cerebellar hypoplasia, Dystonia	OMIM:616113
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyper...	OMIM:617799
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity	ORPHA:2828
Holoprosencephaly 14	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Partial...	OMIM:619895
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy	OMIM:620133
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Abnormal CNS myelination	OMIM:619053
Alexander Disease	Ataxia, Facial palsy, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyrami...	ORPHA:58
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Optic disc ...	ORPHA:1454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Pachygyria, Ag...	OMIM:613150
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Amyotrophic Dystonic Paraplegia	Spastic paraplegia, Dystonia	OMIM:105300
Oculopharyngodistal Myopathy 1	Ataxia, Facial palsy, Tremor, Weight loss, Brain atrophy, Difficulty walking	OMIM:164310
Wolfram Syndrome 1	Tremor, Optic atrophy, Ataxia, Cerebral atrophy	OMIM:222300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy	OMIM:610131
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis hypoplasia, Brain atrophy	OMIM:611209
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Bro...	OMIM:617330
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Mulibrey Nanism	Cachexia	ORPHA:2576
Kufor-Rakeb Syndrome	Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypotonia, Obesi...	OMIM:614947
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Tremor, Obesity, Neonatal hypotonia	OMIM:619680
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination, Demyelinating peri...	ORPHA:420741
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Macrogyria, Athetosis, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus ...	OMIM:614866
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Beta-Ketothiolase Deficiency	Ataxia, Hypotonia, Weight loss, Extrapyramidal dyskinesia, Spasticity	ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Babinski sign, Hypotonia, Tongue...	OMIM:252010
Wilson Disease	Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive	ORPHA:905
Slc39A8-Cdg	Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, D...	ORPHA:468699
Moynahan Syndrome	Cachexia	ORPHA:2574
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Delayed CNS myelination, Hypotonia, Dystonia	OMIM:613161
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated sensory loss,...	ORPHA:139417
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Delayed myelination, Cerebral atrophy	OMIM:608779
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Cerebellar vermis hypoplasia, Ataxia, Inability to walk, Hypotonia, Dystonia, ...	OMIM:620083
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Hypotonia, CNS hypomyelination, Frontotemporal cerebral atrop...	OMIM:619534
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypotonia, Weight loss	ORPHA:1842
Filippi Syndrome	Optic atrophy, Hypotonia, Paraplegia, Limb dystonia, Spasticity	ORPHA:3255
Hypercalcemia, Infantile, 1	Failure to thrive, Hypotonia, Weight loss	OMIM:143880
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Optic atrophy, Hypotonia, Generalized hypotonia, Dystonia, Neon...	OMIM:610505
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Weight loss, Abnormal superior cerebellar peduncle morphology, Somatic sensory dysfu...	ORPHA:370348
Rere-Related Neurodevelopmental Syndrome	CNS demyelination, Cerebellar vermis hypoplasia, Optic atrophy, Hypotonia	ORPHA:494344
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Polymicrogyria, Corpus callosum atrophy, Cerebral dysmyelination	OMIM:261515
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Hypotonia, Weight loss, Apraxia, Failure to thrive	ORPHA:99885
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Delayed CNS myelination, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy...	OMIM:124000
Chédiak-Higashi Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Atrophy of the spi...	ORPHA:167
Blepharonasofacial Malformation Syndrome	Optic atrophy, Torsion dystonia	ORPHA:1252
9Q33.3Q34.11 Microdeletion Syndrome	Delayed CNS myelination, Spastic tetraparesis, Inability to walk, Patent ductus arteriosus, Cereb...	ORPHA:495818
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy	OMIM:193700
Lesch-Nyhan Syndrome	Hypotonia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia,...	OMIM:300322
Trichothiodystrophy	Cerebral dysmyelination, Partial agenesis of the corpus callosum, Abnormal pyramidal sign, Gait a...	ORPHA:33364
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Whipple Disease	Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus	ORPHA:3452
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Monosomy 18P	Holoprosencephaly, Generalized dystonia, Hypotonia	ORPHA:1598
Giant Cell Arteritis	Optic atrophy, Ataxia, Paresthesia, Weight loss	ORPHA:397
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive	OMIM:613179
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Hypotonia, Abnormal myelination	OMIM:617333
Pleural Mesothelioma	Weight loss	ORPHA:50251
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Gait disturbance, Dystonia	OMIM:617903
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Unsteady gait, Cerebral atrophy, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus, ...	ORPHA:17
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Leukodystrophy, Infantile muscular hypotonia	ORPHA:444013
Follicular Lymphoma	Weight loss	ORPHA:545
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Hypotonia, Weight loss, Myoclonus, Spasticity	ORPHA:20
Bohring-Opitz Syndrome	Delayed peripheral myelination, Failure to thrive, Hypotonia, Dandy-Walker malformation	OMIM:605039
Mcdonough Syndrome	Cachexia	ORPHA:2471
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Incoordination, Hypotonia, Generali...	OMIM:223900
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor funct...	ORPHA:79255
Gabriele-De Vries Syndrome	Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Delayed myelination, Hypotoni...	ORPHA:506358
Wilson Disease	Limb dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Parkinsonism...	OMIM:277900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Eosinophilic Granulomatosis With Polyangiitis	Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss	ORPHA:183
Niemann-Pick Disease, Type C2	Ataxia, Hypotonia, Dystonia, Cataplexy, Spasticity	OMIM:607625
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia	OMIM:617011
X-Linked Intellectual Disability, Cabezas Type	Tremor, Broad-based gait, Obesity, Cachexia	ORPHA:85293
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity	OMIM:256800
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Ataxia, Spastic paraplegia, Clumsiness, Subcortical cerebral atrophy, Chiari ...	ORPHA:309282
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Tremor, Delayed myelination, Patent ductus arteriosus, Partial absence of cer...	ORPHA:280633
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Chorea, Hydrocephalus, Optic atrophy, Hypotonia, Spi...	ORPHA:2162
Hurler Syndrome	Abnormal CNS myelination, Hydrocephalus, Neurodegeneration	OMIM:607014
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Lower limb spasticity, Delayed CNS myelination, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy...	OMIM:619950
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Polymyositis	Gait disturbance, Hypotonia, Weight loss	ORPHA:732
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
Isolated Sedoheptulokinase Deficiency	Subcortical cerebral atrophy, Abnormal CNS myelination	ORPHA:440713
Pfapa Syndrome	Weight loss	ORPHA:42642
Mast Cell Sarcoma	Weight loss	ORPHA:66661
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia, Failure...	OMIM:617248
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Difficulty walking	OMIM:252940
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Spasticity, Unilateral vocal cord paralysis, Cerebral atrophy	OMIM:301030
Renpenning Syndrome	Cachexia	ORPHA:3242
Takayasu Arteritis	Weight loss	ORPHA:3287
Glycogen Storage Disease Ii	Abnormal CNS myelination, Diaphragmatic paralysis, Hypotonia, Difficulty walking	OMIM:232300
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Lathosterolosis	Chiari malformation, Myoclonus, Cerebellar cortical atrophy	ORPHA:46059
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Immunodeficiency 27A	Weight loss	OMIM:209950
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Neonatal hypotonia, Optic atrophy, Dystonia	ORPHA:457193
Skin Creases, Congenital Symmetric Circumferential, 1	Dandy-Walker malformation, Cerebellar vermis atrophy	OMIM:156610
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia	OMIM:618947
Ring Chromosome 10 Syndrome	Hypotonia, Cachexia	ORPHA:1438
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Knobloch Syndrome 1	Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Polymicrogyria	OMIM:267750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Patent ductus arteriosus, Global brain atrophy	ORPHA:369837
Thymic Neuroendocrine Tumor	Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm	ORPHA:97289
Tetrasomy 12P	Hypotonia, Cachexia	ORPHA:884
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Mercury Poisoning	Tremor, Dystonia	ORPHA:330021
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Focal Myositis	Weight loss	ORPHA:48918
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
Alg9-Cdg	Cerebellar atrophy, Lower limb spasticity, Torticollis, Delayed myelination, Cerebral atrophy	ORPHA:79328
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Thymoma	Demyelinating peripheral neuropathy, Weight loss	ORPHA:99867
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Patent ductus arteriosus, Dandy-Walker malformation, Cerebellar dysplasia	ORPHA:487796
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Hypotonia, Delayed peripheral myelination	ORPHA:364577
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Hydrocephalus, Hypotonia, Chiari type I malformation, Leukodystrophy, Failure to thrive	OMIM:619575
Poems Syndrome	Papilledema, Paresthesia, Hyperesthesia, Weight loss	ORPHA:2905
Chromosome 18P Deletion Syndrome	Small for gestational age, Hypotonia, Dystonia	OMIM:146390
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia	OMIM:603041
Leishmaniasis	Weight loss	ORPHA:507
Kaposi Sarcoma	Weight loss	ORPHA:33276
Lipoid Proteinosis	Dystonia	ORPHA:530
Erdheim-Chester Disease	Abnormal cerebellum morphology, Ataxia, Weight loss	ORPHA:35687
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxi...	ORPHA:2072
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Paraparesis, Paraplegia, Hemiparesis, Leukodystrophy	ORPHA:79124
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Involuntary movements	ORPHA:98784
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Chronic Beryllium Disease	Weight loss	ORPHA:133
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Osteosarcoma	Weight loss	ORPHA:668
Trisomy 18	Spina bifida, Cachexia, Anencephaly, Hypotonia, Hypertonia, Chiari malformation, Holoprosencephaly	ORPHA:3380
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Tetraplegia, Myoclonus, Brain atrophy, Dystonia, Failure to thrive	OMIM:618278
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Oculomotor apraxia, Abnormal myelination	ORPHA:67045
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Cerebellar dysplasia	OMIM:601374
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Limb dystonia, Hydrocephalus, Babinski sign, Hemiparesis, Peripapillary atrop...	OMIM:175780
Cap Polyposis	Weight loss	ORPHA:160148
Legius Syndrome	Neurofibroma, Hypotonia, Chiari type I malformation, Vestibular schwannoma, Dystonia, Optic nerve...	ORPHA:137605
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia	ORPHA:1578
Bullous Pemphigoid	Weight loss	ORPHA:703
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Cachexia	OMIM:175500
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia	ORPHA:79107
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Periventricular heterotopia, Partial agenesis of th...	OMIM:270400
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy	OMIM:210730
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Leukodystrophy	OMIM:601539
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Nmda Receptor Encephalitis	Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo...	ORPHA:217253
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Optic atrophy, Cachexia	OMIM:610965
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Mogs-Cdg	Dystonia, Optic atrophy, Infantile muscular hypotonia	ORPHA:79330
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy	OMIM:270100
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100085
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Cerebellar vermis hypoplasia, Delayed CNS myelination, Optic nerve hypoplasia...	OMIM:620330
Yao Syndrome	Weight loss	OMIM:617321
Loeffler Endocarditis	Weight loss	ORPHA:75566
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Osteootohepatoenteric Syndrome	Hydrocephalus, Failure to thrive, Weight loss	OMIM:619377
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Broad-based gait, Involuntary movements, Inabili...	ORPHA:438213
Bronchial Neuroendocrine Tumor	Weight loss, Pulmonary carcinoid tumor	ORPHA:97287
Camurati-Engelmann Disease	Waddling gait, Ataxia, Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build	ORPHA:1328
Silver-Russell Syndrome	Cachexia, Failure to thrive in infancy, Obesity, Generalized neonatal hypotonia	ORPHA:813
Simple Cryoglobulinemia	Weight loss, Paresthesia, Spontaneous pain sensation	ORPHA:91139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Pachygyria, Cerebellar hypoplasia, Myoclonus, Spasticity, Polymicrogyria, T...	OMIM:253280
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Abnormality of extrapyramidal motor function, Dystonia	ORPHA:79233
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Imerslund-Gräsbeck Syndrome	Failure to thrive, Hypotonia, Weight loss	ORPHA:35858
Felty Syndrome	Weight loss	ORPHA:47612
Semilobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Inability to walk, Hydrocephalus, Oromotor apraxi...	ORPHA:93924
Short Syndrome	Weight loss	ORPHA:3163
Behçet Disease	Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait disturbance	ORPHA:117
Aredyld Syndrome	Cachexia	ORPHA:1133
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Orofaciodigital Syndrome Type 1	Tremor, Ataxia, Dandy-Walker malformation, Dystonia	ORPHA:2750
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Ménétrier Disease	Weight loss	ORPHA:2494
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Nephroblastoma	Weight loss	ORPHA:654
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Monosomy 22Q13.3	Impaired pain sensation, Agenesis of corpus callosum, Cerebellar cortical atrophy	ORPHA:48652
Refractory Celiac Disease	Weight loss	ORPHA:398063
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Rheumatoid Arthritis	Weight loss	OMIM:180300
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Wolman Disease	Cachexia	ORPHA:75233
Mucolipidosis Type Ii	Inability to walk, Appendicular hypotonia, Axial hypotonia, Weight loss	ORPHA:576
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Arboleda-Tham Syndrome	Axial hypotonia, Optic atrophy, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hyp...	OMIM:616268
Fryns-Smeets-Thiry Syndrome	Hypotonia, Cachexia	ORPHA:2058
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Pemphigus Vulgaris	Weight loss	ORPHA:704
Pneumocystosis	Weight loss	ORPHA:723
Primary Myelofibrosis	Cachexia	ORPHA:824
Schwartz-Jampel Syndrome	Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight	ORPHA:800
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Neuroleptic Malignant Syndrome	Tremor, Chorea, Extrapyramidal muscular rigidity, Oculogyric crisis	ORPHA:94093
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Ependymoma, Insulinoma, Pulmonary carcinoi...	ORPHA:652
Late-Onset Isolated Acth Deficiency	Failure to thrive, Weight loss	ORPHA:199299
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Cystic Echinococcosis	Weight loss	ORPHA:400
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Al Amyloidosis	Weight loss	ORPHA:85443
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:241080
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Acute Adrenal Insufficiency	Failure to thrive, Hypotonia, Weight loss	ORPHA:95409
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cerebellar cortical atrophy	OMIM:619321
Juvenile Dermatomyositis	Hypotonia, Weight loss	ORPHA:93672
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Brucellosis	Chorea, Failure to thrive, Small for gestational age, Weight loss	ORPHA:1304
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Polycythemia Vera	Weight loss	ORPHA:729
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Bannayan-Riley-Ruvalcaba Syndrome	Hypotonia, Cachexia	ORPHA:109
Norrie Disease	Clonus, Cachexia, Optic atrophy, Hypotonia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Fai...	ORPHA:649
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Cancer-Associated Retinopathy	Diffuse cerebellar atrophy	ORPHA:71505
Cystinosis, Nephropathic	Cerebral atrophy, Failure to thrive in infancy, Oral motor hypotonia, Weight loss	OMIM:219800
Q Fever	Weight loss	ORPHA:781
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Fanconi Anemia	Hydrocephalus, Spina bifida, Weight loss	ORPHA:84
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Rabson-Mendenhall Syndrome	CNS demyelination	ORPHA:769
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Weight loss	ORPHA:100078
Klatskin Tumor	Weight loss	ORPHA:99978
Caroli Disease	Weight loss	ORPHA:53035
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Woodhouse-Sakati Syndrome	Choreoathetosis, Dystonia	ORPHA:3464
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Hypotonia, Weight loss	ORPHA:2020
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Degcags Syndrome	Small for gestational age, Vocal cord paralysis, Hypotonia, Abnormal myelination, Failure to thrive	OMIM:619488
Castleman Disease	Weight loss	ORPHA:160
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Nijmegen Breakage Syndrome	Glioma, Cachexia	ORPHA:647
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Addison Disease	Failure to thrive, Weight loss	ORPHA:85138
Immunodeficiency 31C	Weight loss	OMIM:614162
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Increased body weight, Pulmonary carcinoid tumor, Weight loss, Trunca...	ORPHA:99889
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Marfan Syndrome	Meningocele, Slender build, Hypotonia, Cachexia	ORPHA:558
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Hypotonia, Dandy-Walker malformation, Abnormal myelination	ORPHA:434179
Rat-Bite Fever	Weight loss	ORPHA:31205
Dermatomyositis	Hypotonia, Weight loss	ORPHA:221
Juvenile Polyposis Of Infancy	Cachexia, Generalized hypotonia	ORPHA:79076
Seckel Syndrome	Cachexia	ORPHA:808
Autosomal Recessive Cutis Laxa Type 1	Dystonia	ORPHA:90349
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Weight loss	ORPHA:79078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Weight loss	OMIM:181000
Reactive Arthritis	Weight loss	ORPHA:29207
Somatostatinoma	Weight loss	ORPHA:97283
Stickler Syndrome	Hemiplegia/hemiparesis, Slender build, Hypotonia, Cachexia	ORPHA:828
Parathyroid Carcinoma	Weight loss	ORPHA:143
Postinfectious Vasculitis	Weight loss	ORPHA:48435
Pyomyositis	Weight loss	ORPHA:764
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Pancreatoblastoma	Weight loss	ORPHA:677
Tropical Pancreatitis	Weight loss	ORPHA:103918
Malt Lymphoma	Weight loss	ORPHA:52417
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Nocardiosis	Weight loss	ORPHA:31204
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Sarcoidosis	Facial palsy, Weight loss	ORPHA:797
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Weight loss	ORPHA:91500
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Proteus Syndrome	Cachexia	ORPHA:744
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tubb4a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tubb4a.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Tubb4b is required for multi-ciliogenesis in the mouse.	Development (Cambridge, England) (January 2024)	Tubb4a^{tm1(KOMP)Wtsi}	PMC10820790
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy.	Science advances (February 2022)	Tubb4a^{tm1(KOMP)Wtsi}	PMC8849301

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tubb4a^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tubb4a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tubb4a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tubb4a^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tubb4a^{tm1.1(KOMP)Wtsi}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Tubb4a^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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My Genes

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Gene: Tubb4a MGI:107848

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Embryo LacZ

X-ray

X-ray

X-ray

Eye Morphology

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Tubb4a mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data