Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cers1 MGI:2136690

Gene Summary

Name:

ceramide synthase 1

Synonyms:

CerS1, Lass1, Uog-1, to

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Cers1^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00
increased neutrophil cell number		Cers1^{tm1b(EUCOMM)Hmgu}	HET		Early adult	8.18×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 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	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	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)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	50% (1 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

View images

Adult LacZ

LacZ Images Wholemount

2 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Cers1 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 Cers1 (4 diseases)
Human diseases predicted to be associated with Cers1 (1251 diseases)

The table below shows human diseases associated to Cers1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Right Atrial Isomerism	Asplenia, Polysplenia	OMIM:208530
Congenital Heart Defects, Multiple Types, 6		OMIM:613854
Tetralogy Of Fallot		ORPHA:3303

The table below shows human diseases predicted to be associated to Cers1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
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, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Cerebellar hypoplasia	OMIM:213000
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ...	OMIM:143100
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Spinocerebellar Ataxia, Autosomal Recessive 25	Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia	OMIM:617584
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Restlessness, Increased neuronal autofluorescent lipopigment, Cerebral atroph...	OMIM:610003
Hydrocephaly-Cerebellar Agenesis Syndrome	Ataxia, Cerebellar agenesis	ORPHA:1397
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig...	OMIM:236792
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R...	OMIM:607136
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Truncal ataxia, Limb ataxia, Difficulty walking, Cognitive impairment, Brain atrophy, Cerebellar ...	ORPHA:363432
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor...	ORPHA:101010
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat...	OMIM:619742
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Depression, Gait ataxia, Dementi...	OMIM:615362
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Attention ...	OMIM:605361
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,...	OMIM:600795
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Developmental And Epileptic Encephalopathy 14	Clonus, Focal autonomic seizure, Focal motor seizure, Tetraplegia, Status epilepticus, Gliosis, S...	OMIM:614959
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Cerebral atrophy, Dysphagia, Me...	OMIM:613925
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Pontocerebellar Hypoplasia, Type 4	Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Hypertonia, Gli...	OMIM:225753
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Ceroid Lipofuscinosis, Neuronal, 11	Mental deterioration, Cerebellar atrophy, Ataxia	OMIM:614706
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei...	OMIM:600143
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G...	OMIM:614561
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Gait disturbance	ORPHA:98766
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Intention...	OMIM:618876
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Seizu...	OMIM:221820
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse...	OMIM:611726
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia 12	Cerebellar atrophy, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Dem...	OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigm...	OMIM:162350
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Mental d...	OMIM:610951
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain	Cerebral degeneration, Ataxia	OMIM:260970
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ataxia, Simplified gyral pattern	OMIM:613402
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra...	ORPHA:95434
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Cerebral atrophy, Spastic gait, Difficulty walking	OMIM:611252
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio...	OMIM:604218
Dentatorubral-Pallidoluysian Atrophy	Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus...	OMIM:125370
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Spinocerebellar Ataxia 48	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tremor, Chore...	OMIM:618093
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Autosomal Recessive Spastic Paraplegia Type 32	Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy	ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure	OMIM:615705
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,...	OMIM:614322
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Depression, Gait ataxia, Irritabilit...	ORPHA:248111
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memor...	ORPHA:204
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Progressive forgetfulness, Depression, Gait ataxia, Irritability...	ORPHA:282166
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio...	OMIM:604484
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia	OMIM:300857
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Spinocerebellar Ataxia Type 43	Unsteady gait, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dementia, Cerebellar verm...	ORPHA:497764
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic...	ORPHA:99802
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the...	OMIM:609161
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Cerebellar vermis atrophy	OMIM:618185
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior, Large for gestational age, Bruxism, Spasticity	ORPHA:356996
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Cerebral atrophy, Lissencephaly, Pachygyria, Polymicrogyria	OMIM:618730
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Gait ataxia, ...	OMIM:617862
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Hippocampal sclerosis, Focal sensory seizure with visual ...	OMIM:615400
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ...	ORPHA:330050
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, M...	OMIM:615924
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun...	OMIM:302500
Nescav Syndrome	Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Cerebral a...	OMIM:614255
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chiari type I malformation, Bradykinesi...	OMIM:617836
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher...	OMIM:615095
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Limb ataxia, Depression, Gait ataxia, Gait dis...	ORPHA:98764
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ...	OMIM:610185
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Ataxia, Corpus callosum atrophy,...	OMIM:619389
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Seizure, Gliosis,...	OMIM:612936
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Huntington Disease-Like 2	Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Cere...	ORPHA:98934
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure...	ORPHA:71517
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Polymicrogyria, Hypoplasia of the pons, Cerebral atrophy	OMIM:618973
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis...	OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, ...	ORPHA:101112
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Inability to walk, Cerebral atrophy	OMIM:618468
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ...	OMIM:610357
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Ataxia, Depression, Difficulty walking, Cerebral cortical atrophy	OMIM:619425
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure...	OMIM:616981
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Ankle clo...	OMIM:616657
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Dysmetria, Impaired tandem gait, O...	OMIM:619028
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Unst...	OMIM:616795
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Mast Syndrome	Cerebellar atrophy, Cerebral atrophy, Athetosis, Dysdiadochokinesis, Dementia, Gait disturbance, ...	OMIM:248900
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Cerebe...	OMIM:224050
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s...	ORPHA:457240
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Cerebral atrophy, Perisylvian polymicrogyria, Attention deficit hyperactivity...	OMIM:619605
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Inappropriate laughter, Gait ataxia	OMIM:619323
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Cerebral atroph...	OMIM:613811
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus...	ORPHA:168486
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig...	ORPHA:79263
Spinocerebellar Ataxia 19	Cerebellar atrophy, Dysphagia, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cognitive...	OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a...	OMIM:613728
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Restlessness, Frontotemporal dementia, Temporal cortical ...	ORPHA:100070
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Seizure, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical at...	ORPHA:33445
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Gordon Holmes Syndrome	Cerebellar atrophy, Dementia, Ataxia, Cerebral atrophy	OMIM:212840
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Brain atrophy	OMIM:618741
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Depression, Dementia, Neurodegeneration	OMIM:615889
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Ataxia, Aggressive behavior, Gait ataxia, Bradykinesia, Dementia, Falls, Ment...	OMIM:617225
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign	OMIM:617770
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Cln5 Disease	Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Tremor, F...	ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Spasticity, Bruxism, Aggressive behavior	OMIM:615493
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Huntington Disease	Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ...	ORPHA:399
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene...	OMIM:618141
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Dementia, Loss of ambul...	OMIM:619806
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Pontocerebellar Hypoplasia, Type 2A	Hypoplasia of the pons, Chorea, Opisthotonus, Seizure, Gliosis, Cerebellar hypoplasia, Extrapyram...	OMIM:277470
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga...	OMIM:605259
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:139485
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi...	OMIM:607565
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Cerebellar ...	ORPHA:280210
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia,...	OMIM:617916
Focal Cortical Dysplasia, Type Ii	Cognitive impairment, Astrocytosis	OMIM:607341
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei...	ORPHA:98811
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizu...	OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin...	OMIM:616204
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Atrophy/Degeneration involv...	ORPHA:225154
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Waddling gait	OMIM:619090
Pyruvate Dehydrogenase E1-Alpha Deficiency	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Small for gestational age, Inability to...	ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iiz	Diffuse cerebellar atrophy	OMIM:620201
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Dysm...	OMIM:617954
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady...	OMIM:617633
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Seizure, Cerebellar vermis atrophy	OMIM:618501
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Seizure, Gliosis	OMIM:613002
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Cer...	ORPHA:208513
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr...	OMIM:617435
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Gait disturbance, Myoclonus, Gliosis, ...	OMIM:221770
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Global brain atrophy	OMIM:618276
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Athetosis, Mental deterioration	OMIM:619310
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Ataxia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Atro...	OMIM:619971
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin...	OMIM:614498
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Difficulty walking	ORPHA:468661
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple...	OMIM:618404
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ...	ORPHA:300573
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Bradykinesia, Dementia	ORPHA:329284
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity	OMIM:278780
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni...	OMIM:301107
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Dysmetria, Depression, Gait ataxia...	OMIM:615157
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Spasticity...	OMIM:619847
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Cln3 Disease	Cerebellar atrophy, Ataxia, Aggressive behavior, Loss of ambulation, Depression, Bradykinesia, Pi...	ORPHA:228346
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Infantile spasms, Cerebral atrophy, Seizure, Athetosis, Dystonia, Spasticity,...	OMIM:617132
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Cognitive impairment	OMIM:613909
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, Inability to walk, Unsteady gait, Cerebral atrophy, Gait ataxia, Deme...	ORPHA:1947
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress...	OMIM:612020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra...	OMIM:607250
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor...	OMIM:617665
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Seizure, Failure to thrive, Ataxia	OMIM:618951
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Progressive cerebellar ataxia, Cognitive impairment	ORPHA:276183
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph...	OMIM:614877
Pick Disease Of Brain	Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria...	OMIM:172700
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic se...	OMIM:618917
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para...	OMIM:169500
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decre...	OMIM:614559
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff...	OMIM:612319
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Severe temper tantrums, Ataxia, Dysmetria, Gait ataxia, Attention deficit hyp...	OMIM:614306
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Aggressive behavior, Cerebral atrophy, Bradykinesia, Dementia, Neur...	OMIM:300894
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons	OMIM:619303
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a...	OMIM:603218
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy,...	ORPHA:263516
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Babinski si...	ORPHA:98761
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm, Inability to walk	OMIM:619561
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Dysmetria, Depression, Gait ataxia, Impaired tandem...	OMIM:300623
Spinocerebellar Ataxia Type 25	Progressive cerebellar ataxia, Diffuse cerebellar atrophy, Abnormal cerebellar cortex morphology,...	ORPHA:101111
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve...	ORPHA:98
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Gait dis...	ORPHA:542310
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Loss of...	OMIM:611390
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Spinocerebellar Ataxia 10	Cerebellar atrophy, Dysmetria, Depression, Gait ataxia, Limb ataxia, Bradykinesia, Dementia, Prog...	OMIM:603516
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Cerebral atrophy	OMIM:617899
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Babinski sign, Spastic p...	OMIM:614409
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Dysphagia	ORPHA:496689
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal trac...	OMIM:607259
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apra...	OMIM:612438
Supranuclear Palsy, Progressive, 1	Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Bradykinesia, Irritability, Senile plaq...	OMIM:601104
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ...	OMIM:614487
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Developmental And Epileptic Encephalopathy 71	Seizure, Gliosis	OMIM:618328
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chor...	OMIM:617493
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typ...	ORPHA:845
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Ataxia, Cerebral atrophy, Gait disturbance, Cognitive impairment, Dysphagia	ORPHA:309162
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Axonal degeneration, Loss of ambulation, Gait ataxia, Limb ataxia, De...	OMIM:208920
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Cerebral atrophy, Depression, Bradykinesia, Shuffling gait, Cognitive...	ORPHA:254886
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Pachygyria, Cerebe...	ORPHA:370980
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Depression, Pigmentary retinopathy, Dementia, Progressive l...	ORPHA:79264
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral atrophy	OMIM:619690
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Atrophy/Degeneration affecting the brainstem, Unste...	OMIM:616479
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Self-injurious behavior, Inappropriate l...	OMIM:614254
Leigh Syndrome	Ataxia, Seizure, Gliosis, Dystonia, Spasticity, Failure to thrive	OMIM:256000
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Gait disturbance, Ataxia, Progressive neurologic deterioration	ORPHA:85317
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Gerstmann-Straussler Disease	Cerebellar atrophy, Aggressive behavior, Limb ataxia, Emotional lability, Depression, Gait ataxia...	OMIM:137440
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Dysmetria	OMIM:618384
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Glios...	OMIM:614946
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Inability to walk, Irritability, Athetosis, Gait disturbance, Loss of ambulation	OMIM:618241
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Broad-based gait, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Dementia...	ORPHA:320391
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Mitochondrial Dna Depletion Syndrome 17	Epilepsia partialis continua, Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy,...	OMIM:618567
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Dysmetria, Cognitive impairment, Loss of ambulation,...	OMIM:616680
Cach Syndrome	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	ORPHA:135
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:183090
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio...	ORPHA:100973
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tre...	ORPHA:363717
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia	OMIM:618879
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Broad-based gait, Head titubation, Gait ataxia, Focal impaired awarenes...	OMIM:620208
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Seizure, Gl...	ORPHA:3240
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G...	OMIM:618170
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Simplified gyral pattern...	OMIM:616171
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme...	ORPHA:251347
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dystonia,...	OMIM:607694
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Inability to walk, Dysphagia	OMIM:617086
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Dysmetria, Limb ataxia, Ankle clon...	ORPHA:284289
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac...	OMIM:301029
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm...	OMIM:302800
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecti...	ORPHA:98755
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetr...	ORPHA:313772
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre...	OMIM:312080
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Bilateral t...	OMIM:617193
Spastic Paraplegia Type 7	Cerebellar atrophy, Cerebral cortical atrophy, Attention deficit hyperactivity disorder, Dysphagi...	ORPHA:99013
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia	OMIM:617207
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ...	ORPHA:445062
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Spastic tetraplegia, Tetraplegia, Seizure, Hypertonia, Gliosis	OMIM:608033
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Leukoencephalopathy With Vanishing White Matter 1	Unsteady gait, Seizure, Gait disturbance, Gliosis, Spasticity	OMIM:603896
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Tremor, Seizure, Spasticity, Cerebral cortical atrophy	OMIM:300983
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia	OMIM:616286
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb ataxia, Cognitive impairment, Truncal ataxia	OMIM:617560
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Seizure, Neurodegenerati...	OMIM:214150
Spinocerebellar Ataxia 21	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Akinesia, Limb ataxia, Gait ataxia,...	OMIM:607454
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell...	OMIM:618060
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Peho-Like Syndrome	Cerebellar atrophy, Pachygyria, Lissencephaly, Polymicrogyria	OMIM:617507
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Inability to walk, Cerebellar vermis atrophy, Cerebral atrophy	OMIM:616721
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Inability to walk	OMIM:618324
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di...	OMIM:616505
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokines...	ORPHA:289494
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Spasticity, Neuronal...	OMIM:616239
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica...	OMIM:113610
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Inability to walk, Dandy-Walker malformation	ORPHA:438178
Mantle Cell Lymphoma	Anorexia, Weight loss	ORPHA:52416
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Abnormal pyramid...	ORPHA:369939
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile...	ORPHA:477673
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ...	ORPHA:683
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Christianson Syndrome	Cerebellar atrophy, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Apl...	ORPHA:85278
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Men...	OMIM:610127
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Cerebellar atrophy, Ataxia, Impul...	ORPHA:35069
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Irritability	OMIM:618237
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Self-injurious behavior, Athetosis, Cerebellar hypoplasia, Cerebral cortical ...	OMIM:619922
Spinocerebellar Ataxia Type 36	Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria...	ORPHA:276198
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Inability to walk, Ataxia, Gait ataxia	OMIM:617915
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic...	ORPHA:352582
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Cerebral cortical atrophy, Cerebral atrophy	OMIM:609924
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Dysmetria, Xanthelasma, Progressive cerebellar ...	OMIM:277460
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Ataxia, Cognitive impairment, Atrophy/Degeneration affecting the brainstem, H...	OMIM:616267
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, My...	OMIM:159950
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent...	OMIM:614307
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior	OMIM:271980
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, C...	OMIM:615643
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Inability to walk, Cerebral atrophy	OMIM:618006
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Gait ataxia	ORPHA:320385
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit...	ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bra...	OMIM:610217
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Seizure, Brad...	OMIM:261640
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Athetosis, Dysphagia, L...	OMIM:271245
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Ga...	OMIM:618321
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai...	ORPHA:508093
Pulmonary Blastoma	Weight loss	ORPHA:64741
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Frontotemporal cerebral atrophy, Gait disturb...	ORPHA:391417
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Akinesia, Rigidity...	OMIM:619911
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Unsteady gait, Limb ataxia, Depression, Gait ...	ORPHA:98760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Broad-based gait, Ataxia, Dysmetria, Dysphagia	OMIM:618098
Hartnup Disorder	Episodic ataxia, Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder	OMIM:234500
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Irritability, Cerebral atrophy	OMIM:619125
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Cerebellar vermis hypoplasia, Cerebral atrophy, Cerebellar hypoplasia, Brain ...	OMIM:611523
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Difficulty walking, Abnormal repetitive mannerisms, Cerebral c...	ORPHA:280763
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Tetraplegia, Cerebral atrophy, Hypertonia, Failure to thrive	OMIM:274270
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Cerebral cortical atrophy, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Ataxia, Irritability, Brain atrophy, Dysphagia, Lethargy	OMIM:618226
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Limb ataxia, Dysmetria, Progressive cerebellar ataxia, Progressive gait ataxia, Dy...	ORPHA:1175
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G...	OMIM:618877
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Gait imbalance, Cerebellar hypoplasia, Gait ataxia	ORPHA:488635
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Failure to thrive, Limb hypertonia	OMIM:617162
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Atrophy of the spinal cord, Depression, Progressive gait ataxia, Falls, Dysph...	ORPHA:329308
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Atypical Rett Syndrome	Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ...	ORPHA:3095
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Frontotemporal cerebral atrophy, Irritability, Diff...	ORPHA:79097
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Inability to walk, Astrocytosis, Pontocerebellar atrophy, Lissencephaly, Cognitive impairment, Dy...	ORPHA:258
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Dementia, Cognitive i...	ORPHA:513436
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Gait disturbance, Aplasia/Hypoplasia of the cerebellum	ORPHA:2585
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Cerebellar vermis atrophy...	ORPHA:163681
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation	OMIM:617166
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Trunc...	OMIM:301072
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere...	ORPHA:442835
Idiopathic Achalasia	Dysphagia, Weight loss	ORPHA:930
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Impulsivity, Loss of ambulati...	OMIM:614298
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal ganglia gliosi...	OMIM:604377
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Difficulty walking, Astrocytosis	OMIM:611087
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Mental deterioration, Cerebellar atrophy, Dysmetria, Dysphagia	OMIM:619780
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti...	OMIM:618718
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Progressive Myoclonic Epilepsy With Dystonia	Diffuse cerebral atrophy, Diffuse cerebellar atrophy	ORPHA:352596
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Irritability	OMIM:619071
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Cerebellar hypoplasia, Dystonia	OMIM:619422
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral ...	OMIM:203700
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
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 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Ataxia, Depression, Dementia, Memory impairment	OMIM:604121
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610743
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali...	ORPHA:382
Primary Non-Essential Cutis Verticis Gyrata	Seizure, Gliosis	ORPHA:357225
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to ...	OMIM:619580
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetrap...	OMIM:617710
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Tuberculosis	Weight loss	ORPHA:3389
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Ataxia, Confusion, Depression, Subcortical cerebral atrophy, Cerebral cortica...	ORPHA:309288
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Mental deterioration, Progressive cerebellar ataxia, Cerebellar atrophy, Dysphagia	OMIM:618868
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea...	ORPHA:300605
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia	OMIM:613612
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Seizure, Hypertonia, Gait disturbance, Gliosis, Spasticity	ORPHA:88619
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Brain atrophy, Cer...	ORPHA:306669
Leigh Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Infantile spasms, Chorea, Spastic di...	ORPHA:506
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlisse...	OMIM:616212
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Ataxia, Choreoathetosis, Cerebellar vermis atrophy	OMIM:619054
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Broad-based gait, Dysmetria, Retrocerebellar cyst, Progressive cerebe...	ORPHA:363429
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Seizure, Gait disturbance	OMIM:603472
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, ...	OMIM:619725
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Dysmetria	OMIM:301006
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia	ORPHA:209967
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria	OMIM:159550
Mucolipidosis Iv	Cerebellar atrophy, Progressive neurologic deterioration	OMIM:252650
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Cognitive impairment, Atrophy/Degeneration aff...	OMIM:616192
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Sei...	ORPHA:70594
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Episodic Ataxia, Type 6	Cerebellar atrophy, Episodic ataxia, Cerebellar hypoplasia, Truncal ataxia	OMIM:612656
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Unsteady gait, Ataxia	OMIM:300861
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Abnormal cerebellum morphology, Atrophy/Degeneration affecting the brainstem,...	ORPHA:458803
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Hypoplasia of the pons, Corpus callosum atrophy, Unsteady gait, Truncal ataxi...	ORPHA:412057
Isaacs Syndrome	Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cerebral atrophy, Cerebellar vermis atrophy, Dandy-Walker malformation	OMIM:616154
Spinocerebellar Ataxia 28	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:610246
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Choreoathetosis, Cerebral atrophy, Dysphagia	OMIM:618247
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Abnormal pons morphology, At...	ORPHA:77299
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Progressive cerebellar at...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Progressive cerebellar at...	ORPHA:276241
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Ga...	ORPHA:98768
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Opisthotonus, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait disturba...	ORPHA:216866
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Abnormal cerebellum morphology, Dysmetria, Difficulty walking, Dysphagia, Emo...	OMIM:275900
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Substantia ...	ORPHA:276244
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Cerebral atrophy	OMIM:300475
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hyperactivity, Broad-based gait, Ataxia, Hypopigmentation of hair, ...	ORPHA:411515
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Myoclonus, Dysphagia, Cerebral cortical atrophy, I...	ORPHA:97229
Hereditary Methemoglobinemia	Cerebellar atrophy, Temporal cortical atrophy, Athetosis, Frontal cortical atrophy, Global brain ...	ORPHA:621
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Unsteady gait, Cerebral atrophy, Gait disturbance, Cognitive impairment, Dysp...	ORPHA:412217
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epilepticus, Abnorma...	OMIM:615673
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy, Atrophy/Degeneration affecting t...	OMIM:613477
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Perisylvian polymicrogyria, Frontotemporal cerebral atrophy, Atrophy/Degenera...	OMIM:619606
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Dysphagia	OMIM:619686
Lissencephaly, X-Linked, 2	Seizure, Spasticity, Gliosis	OMIM:300215
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysmetria, Depression, Gait ataxia, Bradykinesia, Dementia, Gait disturbance, Compulsive ...	ORPHA:93256
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,...	OMIM:248500
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:233400
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Atrophy/Dege...	OMIM:608027
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Cerebral atrophy, Athetosis, Dysphagia, Loss of ambulation	OMIM:617951
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Small for gestational age, Infantile spasms, Action tremor, Inability to walk...	ORPHA:404454
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Diffuse cerebellar atrophy, Dysphagia	ORPHA:477774
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, G...	OMIM:614104
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Cerebellar vermis atrophy, Dysmetria	OMIM:618438
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysphagia, Pachygyria, Cerebellar cyst	OMIM:606612
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Gait ataxia, Limb ataxia, Depression	OMIM:193003
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem...	ORPHA:98673
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystoni...	OMIM:312170
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus	OMIM:618302
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Cerebral atrophy, Ataxia, Difficulty walking	ORPHA:527497
Cog7-Cdg	Cerebellar atrophy, Subcortical cerebral atrophy, Brain atrophy	ORPHA:79333
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola...	OMIM:609454
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Aggressive behavior, Dysmetria, Dysdiadochokinesis	OMIM:618356
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver...	OMIM:618347
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,...	ORPHA:247234
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Aplasia/Hypoplasia of the...	ORPHA:1192
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi...	OMIM:168605
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Ataxia, Cerebral atrophy, Depression, Atrophy/Degeneration affecting the brai...	ORPHA:314404
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A...	ORPHA:909
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Aggressive behavior, Brain atrophy, Spasticity, Failure to thrive	OMIM:615286
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra...	OMIM:617854
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Neuroferritinopathy	Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C...	ORPHA:157846
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy	OMIM:617481
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Developmental And Epileptic Encephalopathy 109	Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait, Failure to thrive	OMIM:620145
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy	OMIM:614482
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil...	OMIM:607483
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Cerebral atrophy	OMIM:618008
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se...	ORPHA:544254
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Gait disturbance...	OMIM:619259
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Inability to walk, Gait disturbance, Cerebral atrophy	OMIM:618012
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Failure to thrive, Bilateral tonic-clonic seizure, Tre...	OMIM:617988
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Abnormal pyramida...	ORPHA:447753
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Seizure	ORPHA:3124
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Seizure, Gliosis, Cerebellar hypoplasia, Failure to thrive	ORPHA:261652
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Neurodegeneration, Cogn...	ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Abnormal repetitive mannerism...	OMIM:617802
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff...	ORPHA:98897
Spinocerebellar Ataxia 36	Cerebellar atrophy, Ataxia, Dysphagia, Gait ataxia, Limb ataxia, Truncal ataxia	OMIM:614153
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Ataxia, Cerebral atrophy, Gait disturbance, Atrophy/Degeneration affecting th...	OMIM:615838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia, Depression, Bradykinesia, Steppage ...	OMIM:258450
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Cerebral atrophy	OMIM:618729
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Myoclonic seizure, Cerebellar hypoplasi...	OMIM:620327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy	OMIM:618506
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy	ORPHA:544469
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Patent ductus arteriosus, Cerebral atrophy	OMIM:619797
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Spinocerebellar Ataxia 25	Cerebellar atrophy, Ataxia	OMIM:608703
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Simplified gyral pattern, Gait ataxia, Emotional lability, Po...	OMIM:300354
East Syndrome	Cerebellar atrophy, Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Difficulty walki...	ORPHA:199343
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hydrocephalus, Cerebral atrophy	OMIM:610333
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait...	OMIM:103050
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Cerebral atrophy, Xanthelasma, Pseudobulbar paralysis, Dementia, Diff...	OMIM:213700
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus, Dysphagia, Neuronal loss in central nervous system	OMIM:600072
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy	OMIM:618793
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Choreoathetosis	OMIM:616034
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Spontaneous Periodic Hypothermia	Tremor, Seizure, Ataxia, Gait disturbance	ORPHA:29822
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:466794
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Aggressive behavior, Patent ductus arteriosus, Cerebral atrophy, Attention de...	OMIM:618659
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Cerebral atrophy	OMIM:617276
Harel-Yoon Syndrome	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:617183
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Scholte Syndrome	Cerebellar atrophy	OMIM:300977
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Hypertonia, Tics,...	OMIM:617865
Sneddon Syndrome	Tremor, Seizure, Chorea, Hemiparesis	ORPHA:820
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen...	OMIM:616586
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Ataxia	OMIM:611182
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Seizure, Falls, Gliosis, Difficulty walking, Dystonia	OMIM:618222
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Spotty hyperpigmentation, Abnormal ce...	ORPHA:324737
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se...	ORPHA:1942
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy	OMIM:614575
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Pachygyria, Polymicrogyria	OMIM:260565
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Cerebral atrophy, Cerebellar hypoplasia, Mental deterioration, Cerebral corti...	OMIM:616672
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Inability to walk, Gait imbalance, Cerebral atrophy	OMIM:619641
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Cerebral atrophy, Cerebellar cyst	OMIM:614678
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Generalized-onset seizure, Tremor, Hypoesthesia, Obesity, Hemipares...	OMIM:619737
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Ataxia, Inability to walk, Cerebellar hypoplasia, Cerebral cortical atrophy	OMIM:616354
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Truncal ataxia, Dysmetria, Limb ataxia, Spinocerebellar atrophy, Progre...	OMIM:164400
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Cerebral cortical atrophy, Cerebral atrophy, Oral-pharyngeal dysphagia	OMIM:618065
Cockayne Syndrome Type 3	Progressive neurologic deterioration, Unsteady gait, Astrocytosis, Premature graying of hair, Cog...	ORPHA:90324
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Short attention span, Ataxia, Dysmetria, Gait disturbance, Atrophy/Degenerati...	ORPHA:88644
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Pigmentary retinopathy, Lower limb hype...	ORPHA:3208
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:615217
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Brain atrophy	OMIM:614739
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy	OMIM:619609
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Patent ductus arteriosus, Partial absence of cerebellar vermis, Unsteady gait...	ORPHA:329224
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ...	OMIM:252160
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis...	OMIM:617186
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy	OMIM:614654
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Tremor, Seizure, Pontocerebellar atrophy, Failure to thrive	OMIM:608799
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Cerebellar cortical atrophy	OMIM:248800
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Inability to walk, Perisylvian polymicrogyria, Unsteady gait, Cerebra...	OMIM:618443
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Simplified gyral pattern, Cerebral atrophy, Cer...	OMIM:612389
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Cerebral atrophy	OMIM:619060
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy	OMIM:619286
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Cerebral atrophy	OMIM:620269
Episodic Ataxia Type 1	Cerebellar atrophy, Tip-toe gait, Choreoathetosis	ORPHA:37612
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Diffuse cere...	ORPHA:247815
Superficial Siderosis	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Unsteady gait, Dysmetria, Limb ataxia, Pr...	ORPHA:247245
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Decreased circulating cortisol level, Hyperactivity, Ataxia, Spastic tetra...	ORPHA:139396
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Ataxia, Inability to walk, Dysmetria, Dysphagia, Pachygyria, Cerebral cortica...	OMIM:619576
Rett Syndrome	Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical atrop...	OMIM:312750
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Progressiv...	ORPHA:95433
Ataxia-Telangiectasia	Ataxia, Tremor, Seizure, Gait disturbance, Spasticity, Failure to thrive	ORPHA:100
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Cystathioninuria	Tremor, Seizure	ORPHA:212
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban...	ORPHA:765
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, C...	OMIM:615356
Familial Paroxysmal Ataxia	Ataxia, Cerebellar vermis atrophy	ORPHA:97
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ...	OMIM:620023
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo...	OMIM:607426
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Restless legs, Ataxia, Dysmetria, Cerebral atrophy, Dysdiadochokinesis, Dysph...	ORPHA:94147
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Seizure, Athetos...	OMIM:615273
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Simplified gyral pattern, Cerebellar vermis atrophy	OMIM:615760
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Self-mutilation	ORPHA:52503
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Lissencephaly	OMIM:614833
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Dysmetria	OMIM:612674
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm...	OMIM:270550
Bilateral Polymicrogyria	Cerebellar atrophy, 4-layered lissencephaly, Perisylvian polymicrogyria, Pseudobulbar paralysis, ...	ORPHA:268940
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation	ORPHA:3085
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Dysphagia, Weight loss	ORPHA:2198
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Stereotypical ...	OMIM:617302
Lipoyltransferase 1 Deficiency	Cerebellar atrophy	OMIM:616299
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G...	ORPHA:1934
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy	OMIM:607485
Spinocerebellar Ataxia 47	Ataxia, Cerebellar vermis atrophy, Dysmetria	OMIM:617931
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Head-banging, Attention deficit hyperactivity disorder,...	OMIM:619103
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Dysmet...	ORPHA:171629
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Multifocal seizures, ...	ORPHA:572798
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Poor coordination, Poor fine mo...	OMIM:620242
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Cerebral atrophy, Depression, Irritability, Dysdiadochokine...	OMIM:618891
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Self-injurious behavior, Truncal ataxia, Recurrent hand flapping, ...	OMIM:617101
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Spasticity, Ce...	ORPHA:702
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Irritability, Restlessness	ORPHA:544503
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Cerebellar hypoplasia	OMIM:206700
Filippi Syndrome	Cerebellar atrophy	OMIM:272440
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebral cortical atrophy	OMIM:617339
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Retinal pigment epithelia...	OMIM:607459
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t...	ORPHA:83629
Spongiform Encephalopathy With Neuropsychiatric Features	Gliosis, Parkinsonism	OMIM:606688
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm...	ORPHA:52368
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Alg1-Cdg	Cerebellar atrophy, Cerebral atrophy	ORPHA:79327
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Hyperactivity, Ataxia, Hypopigmentation of hair, Abnormal eating behavior, Trem...	ORPHA:98794
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait ataxia	OMIM:614871
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Lethargy, Ataxia, Cerebral cortical atrophy	ORPHA:254913
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ...	OMIM:617600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici...	OMIM:616801
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia, Loss of ambulation	OMIM:620089
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Blue irides, Limb tremor,...	OMIM:105830
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Rapid neurologic deterioration	OMIM:272200
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap...	ORPHA:43
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ataxia	ORPHA:309854
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Irritability	OMIM:619685
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy	OMIM:108500
Argininemia	Cerebellar atrophy, Hyperactivity, Anorexia, Irritability, Spastic gait	OMIM:207800
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Gliosis, Myoc...	OMIM:252150
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai...	OMIM:254900
Cog8-Cdg	Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem	ORPHA:95428
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:268020
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Ataxia, Cerebral atrophy, Cervical myelopathy, Brain atrophy	OMIM:619260
Stt3B-Cdg	Cerebellar atrophy	ORPHA:370924
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hyp...	OMIM:616271
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Dysphagia, Truncal ataxia, N...	OMIM:300243
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Seizure, Gliosis, Fa...	OMIM:261515
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Cerebellar vermis atrophy	OMIM:618087
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Dysphagia	OMIM:615919
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy	OMIM:615597
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Weight loss	ORPHA:391
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Spastic gait, Gait ataxia	ORPHA:496790
Warburg Micro Syndrome 4	Cerebellar atrophy, Inability to walk, Perisylvian polymicrogyria, Cerebral cortical atrophy	OMIM:615663
Stt3A-Cdg	Cerebellar atrophy	ORPHA:370921
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Irritability, Cerebral atrophy	OMIM:615851
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Dysphagia	ORPHA:352447
Flynn-Aird Syndrome	Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation	ORPHA:2047
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, Gliosis, Spasticity, Failure to thrive	OMIM:124000
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia	ORPHA:496756
Craniosynostosis 6	Cerebellar atrophy, Spina bifida occulta, Dandy-Walker malformation	OMIM:616602
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Positive ...	OMIM:105210
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy	OMIM:615084
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Hypermelanotic macule, Weight loss	ORPHA:317
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Cockayne Syndrome	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Inability to wa...	ORPHA:191
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Ataxia	OMIM:618547
Xeroderma Pigmentosum, Complementation Group F	Tremor, Ataxia, Brain atrophy, Decreased body weight	OMIM:278760
Mulibrey Nanism	Cachexia	ORPHA:2576
Oromandibular Dystonia	Torticollis, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic movements, Bruxism	ORPHA:93958
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Generalized-onset seizure, Ataxia, Dystonia, Small for gestational ...	OMIM:220111
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont...	OMIM:146500
Dpm1-Cdg	Cerebellar atrophy, Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Abnormal dentate nucleus m...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Global brain atrophy	OMIM:608776
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Bruxism, Cafe-au-lait spot, Ster...	OMIM:617804
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability...	OMIM:619229
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr...	OMIM:615574
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Cerebral atrophy	OMIM:619272
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigid...	ORPHA:25
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Choreoathetosis, Nonprogressive cerebellar ataxia	ORPHA:431361
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Cerebral atrophy, Corpus callosum atrophy, Brain atrophy	OMIM:616875
Pleural Mesothelioma	Dysphagia, Weight loss	ORPHA:50251
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Polydipsia	OMIM:612780
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Large for gestational age, Abnormal pons morphology, Upper limb spasticity...	OMIM:300868
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Slc35A2-Cdg	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Atrophy/Degeneration affecting the brain...	ORPHA:356961
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Seizure, Gliosis	ORPHA:26791
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia	OMIM:617763
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Cerebral atrophy	OMIM:601110
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Clumsiness, Weight loss, Difficulty w...	ORPHA:905
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ...	ORPHA:466768
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Abnormal cortical gyration, Hydrocephalus, Patent ductus arteriosus, Cerebral...	OMIM:614576
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Cerebral atrophy, Gait dis...	OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G...	OMIM:300486
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Small for gestational age, Failure to t...	ORPHA:268261
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Pachygyria, Simplified gyral pattern, Cerebral atrophy	OMIM:618397
Angelman Syndrome	Hypopigmentation of the skin, Broad-based gait, Hyperactivity, Ataxia, Fair hair, Aggressive beha...	ORPHA:72
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Dystonic gait, Cerebral atrophy, Diffuse cerebellar atrophy, Vitiligo	ORPHA:480898
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis	OMIM:619603
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Dysmetria, Cerebellar hypoplasia, Dysphagia, ...	OMIM:619708
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Papillorenal Syndrome	Chiari type I malformation, Seizure, Gliosis	OMIM:120330
Holocarboxylase Synthetase Deficiency	Ataxia, Anorexia, Weight loss	ORPHA:79242
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho...	OMIM:617675
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:220497
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb...	ORPHA:646
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Moynahan Syndrome	Cachexia	ORPHA:2574
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory...	ORPHA:2388
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ataxia, Patent ductus arteriosus, Cerebral atrophy, Cerebellar hypoplasia	OMIM:615398
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Familial Or Sporadic Hemiplegic Migraine	Cerebellar atrophy, Progressive gait ataxia, Confusion	ORPHA:569
Joubert Syndrome	Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:475
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy	OMIM:613744
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Gait ataxia	ORPHA:543470
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypertriglycer...	ORPHA:167
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malforma...	ORPHA:221098
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Generalized-onset sei...	OMIM:212065
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Spasticity, Babinski sign, Cachexia	OMIM:618186
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Dysphagia, Self-mutilation	OMIM:618922
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spasti...	OMIM:609727
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:617164
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Gait ataxia, Depression, Bradykinesia, Gait disturbance, Cognitive im...	ORPHA:254892
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Self-injurious be...	ORPHA:468678
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Axonal degeneration, Global brain atrophy	OMIM:616811
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Simplified gyral pattern, Dysmetria, Dysdiadochokinesis, Gait disturban...	OMIM:616541
Cog5-Cdg	Cerebellar atrophy, Diffuse cerebral atrophy, Truncal ataxia, Brain atrophy, Atrophy/Degeneration...	ORPHA:263487
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Mitochondrial Neurogastrointestinal Encephalomyopathy	Paresthesia, Dysphagia, Cachexia, Weight loss	ORPHA:298
Cimdag Syndrome	Cerebellar vermis hypoplasia, Ataxia, Cerebral atrophy, Pontocerebellar atrophy, Cerebellar hypop...	OMIM:619273
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Cerebral atrophy	OMIM:616266
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia, Hypopigmented skin p...	ORPHA:206436
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Seizure, Gait disturbance, Oculomotor apraxia	ORPHA:220493
Gm1 Gangliosidosis	Ataxia, Tremor, Unsteady gait, Weight loss, Gait disturbance, Decerebrate rigidity, Abnormality o...	ORPHA:354
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Freckling, Ataxia, Pigmentary retinopathy	OMIM:610651
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,...	OMIM:610042
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Dysphagia	OMIM:615471
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Cerebellar hypoplasia, Progressive neurologic deterioration	OMIM:618329
Alternating Hemiplegia Of Childhood	Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p...	ORPHA:2131
Eosinophilic Gastroenteritis	Weight loss, Dysphagia, Steatorrhea	ORPHA:2070
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Restlessness, Hyperactivity, Aggressive behavior, Agitation, Difficulty walki...	OMIM:252940
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Olivopontocerebellar hyp...	ORPHA:468631
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Weight loss, Spastic diplegia, Lower...	OMIM:619487
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Lethargy, Cerebral atrophy	OMIM:620306
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy	ORPHA:466934
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell...	OMIM:208900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Oral-pharyngeal dysphagia, Gait disturb...	OMIM:300966
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy	OMIM:616683
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp...	OMIM:618590
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Dysphagia, Weight loss	ORPHA:142
Japanese Encephalitis	Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralys...	ORPHA:79139
Combined Oxidative Phosphorylation Defect Type 29	Neurodegeneration, Diffuse cerebellar atrophy, Axonal degeneration, Global brain atrophy	ORPHA:478029
Pyruvate Carboxylase Deficiency	Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar gliosis, Abnormal pyrami...	ORPHA:3008
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Ataxia, Aggressive behavior, Inability to walk, Irritability, Bruxism	OMIM:617799
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Choreoathetosis, Cerebral atrophy	ORPHA:445038
Holoprosencephaly 14	Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P...	OMIM:619895
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Dysphagia	ORPHA:485421
Follicular Lymphoma	Weight loss	ORPHA:545
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Peho Syndrome	Cerebellar atrophy, Hydrocephalus, Cerebral cortical atrophy, Atrophy/Degeneration affecting the ...	ORPHA:2836
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Wolfram Syndrome 1	Tremor, Seizure, Ataxia, Cerebral atrophy	OMIM:222300
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Short attention span, Communicating hydrocephalus, Ataxia, Confusion, Depress...	ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Cerebellar atrophy, Cerebral atrophy	OMIM:616430
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy	OMIM:619835
Beta-Ketothiolase Deficiency	Ataxia, Anorexia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spasticity	ORPHA:134
Cadds	Cerebellar atrophy	ORPHA:369942
Immunodeficiency 27A	Anorexia, Weight loss	OMIM:209950
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Cachexia, Weight loss	ORPHA:1979
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Dysphagia, Abnormal repetitive mannerisms, Cerebral cortical atrophy	ORPHA:496641
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia	ORPHA:1933
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S...	ORPHA:2203
Mevalonic Aciduria	Cerebellar atrophy, Agenesis of cerebellar vermis, Ataxia, Cerebral atrophy, Progressive cerebell...	OMIM:610377
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive, Polyphagia, Steatorrhea	ORPHA:95427
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Weight loss	ORPHA:65682
Tyrosinemia Type 2	Tremor, Seizure, Ataxia	ORPHA:28378
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Focal Myositis	Weight loss	ORPHA:48918
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Generalized hyperpigmentation, Anorexia, Tetraplegia, Weigh...	ORPHA:361
Biotinidase Deficiency	Lethargy, 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
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A...	OMIM:614947
Takayasu Arteritis	Anorexia, Weight loss	ORPHA:3287
Cronkhite-Canada Syndrome	Abnormality of skin pigmentation, Generalized hyperpigmentation, Cachexia, Anorexia	ORPHA:2930
Eosinophilic Fasciitis	Paresthesia, Weight loss	ORPHA:3165
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Weight loss	ORPHA:2221
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Anorexia, Weight loss, Abnormal superior cerebellar ped...	ORPHA:370348
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Brushfield spots, Macrogyria, Athetosis, Pigmentary retinopathy, Cerebellar h...	OMIM:614866
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Spastic tetraplegia, Self-injurious behavior, Hyperesthesia, Severe failure to thrive	ORPHA:371364
Pfapa Syndrome	Weight loss	ORPHA:42642
Adrenocortical Carcinoma	Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight...	ORPHA:1501
Eosinophilic Granulomatosis With Polyangiitis	Hemiplegia/hemiparesis, Hypopigmented skin patches, Weight loss, Central nervous system degenerat...	ORPHA:183
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis hypoplasia, Brain atrophy	OMIM:611209
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Simplified gyral pattern, Cerebral atrophy, Lissencephaly, Pachygyria	OMIM:617729
Mcdonough Syndrome	Cachexia	ORPHA:2471
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Generalized Pseudohypoaldosteronism Type 1	Glucocortocoid-insensitive primary hyperaldosteronism, Failure to thrive in infancy, Weight loss	ORPHA:171876
Leishmaniasis	Anorexia, Weight loss	ORPHA:507
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Abnormal pons morphology, Aggressive behavior	ORPHA:85327
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ataxia, Cerebral atrophy, Pachygyria, Hypopigmentation of the skin, Dandy-Wal...	OMIM:251300
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares...	ORPHA:144
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Cerebral atrophy, Attention deficit hyperactivity disorder, Spin...	OMIM:301030
Wolman Disease	Cachexia, Steatorrhea	ORPHA:75233
Dpagt1-Cdg	Epileptic spasm, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Foc...	ORPHA:86309
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Seizure, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Pr...	ORPHA:512
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Spina bifida occulta	OMIM:193700
Kaposi Sarcoma	Hypermelanotic macule, Weight loss	ORPHA:33276
Helsmoortel-Van Der Aa Syndrome	Tonic seizure, Typical absence seizure, Obesity, Seizure, Truncal obesity, Gliosis, Failure to th...	OMIM:615873
Whipple Disease	Generalized hyperpigmentation, Ataxia, Cachexia, Anorexia, Abnormal pyramidal sign, Myoclonus, Po...	ORPHA:3452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy	OMIM:610131
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Truncal ataxia, Dysme...	OMIM:617330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Ataxia, Dysmetria, Steatorrhea	OMIM:616263
Erdheim-Chester Disease	Ataxia, Abnormal cerebellum morphology, Weight loss, Xanthelasma, Polydipsia	ORPHA:35687
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares...	ORPHA:440437
X-Linked Agammaglobulinemia	Failure to thrive, Hypopigmented skin patches, Weight loss	ORPHA:47
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Obesity	ORPHA:85293
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive, Ataxia, Steatorrhea	OMIM:212750
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy	OMIM:620133
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Patent ductus arteriosus, Choreoathetosis, Cerebral atrophy	OMIM:614080
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Paresthesia, Hyperpigmentation of the skin, Cachexia, Anorexia	OMIM:175500
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Congenital Tufting Enteropathy	Weight loss, Failure to thrive, Steatorrhea	ORPHA:92050
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Dysphagia, Weight loss, Difficulty walking, Brain atrophy	OMIM:164310
Polymyositis	Gait disturbance, Anorexia, Weight loss	ORPHA:732
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Anorexia, Weight loss	ORPHA:37
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia, Steatorrhea	ORPHA:3217
Renpenning Syndrome	Cachexia	ORPHA:3242
Gabriele-De Vries Syndrome	Waddling gait, Small for gestational age, Tremor, Gliosis, Dystonia	ORPHA:506358
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Bronchial Neuroendocrine Tumor	Increased circulating cortisol level, Anorexia, Weight loss	ORPHA:97287
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Enlarged cerebellum, Ataxia	OMIM:620047
Osteosarcoma	Weight loss	ORPHA:668
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Irritability, Dysphagia	OMIM:618367
Cap Polyposis	Weight loss	ORPHA:160148
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Patent ductus arteriosus, Hypertriglyceridemia, Global brain atrophy	ORPHA:369837
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Inability to walk, Difficulty walking, Gait ataxia	ORPHA:99949
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Bullous Pemphigoid	Weight loss	ORPHA:703
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Inability to walk, Global brain atrophy, Truncal ataxia	OMIM:620066
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Weight loss	ORPHA:97289
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Cerebral atrophy	OMIM:619124
Cutis Laxa, Autosomal Recessive, Type Iid	Seizure, Failure to thrive, Gliosis	OMIM:617403
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Anorexia, Weight loss, Failure to thrive, Vitiligo	ORPHA:199299
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Abnormal cortical gyration, Cerebellar cortical atrophy	ORPHA:521426
Ménétrier Disease	Anorexia, Weight loss	ORPHA:2494
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Retinal pigment epithelial mottling, Cerebral atrophy, Abnormality of...	OMIM:216400
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Chronic Beryllium Disease	Weight loss	ORPHA:133
Slc39A8-Cdg	Cerebellar atrophy, Inability to walk, Cerebral cortical atrophy	ORPHA:468699
Giant Cell Arteritis	Ataxia, Paresthesia, Anorexia, Weight loss	ORPHA:397
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Anorexia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity	ORPHA:20
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Hyperpigmented/hypopigmented macules, Patent ductus arteriosus, Partial absen...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Cerebral atrophy	OMIM:608779
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Salt craving, Anorexia, Weight loss, Failure to thrive, Hyp...	ORPHA:95409
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Cerebral atrophy, Ataxia, Global brain atrophy	OMIM:618426
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar...	ORPHA:353281
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Ataxia, Patent ductus arteriosus, Spina bifida occul...	OMIM:267750
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Aggressive Systemic Mastocytosis	Anorexia, Weight loss	ORPHA:98850
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Dysphagia, Slender build	OMIM:603041
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Cerebral cortical atrophy, Communicating hydrocephalus, Gait ataxia	OMIM:617011
8P23.1 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Polyarteritis Nodosa	Weight loss	ORPHA:767
Felty Syndrome	Irregular hyperpigmentation, Generalized hyperpigmentation, Weight loss	ORPHA:47612
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
9Q33.3Q34.11 Microdeletion Syndrome	Inability to walk, Patent ductus arteriosus, Cerebellar vermis atrophy, Dysphagia	ORPHA:495818
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Weight loss	ORPHA:520
Tetrasomy 12P	Cachexia	ORPHA:884
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Cerebral atrophy, Weight loss, T...	OMIM:615846
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Aggressive behavior, Periventricular...	OMIM:270400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo...	OMIM:614756
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Pemphigus Vulgaris	Weight loss	ORPHA:704
Nephroblastoma	Weight loss	ORPHA:654
Yao Syndrome	Weight loss	OMIM:617321
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Ataxia, Numerous pigmented freckles, Cachexia	ORPHA:220295
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Anorexia, Ocular albinism, Weight loss, Melanocytic n...	ORPHA:79430
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Neuroendocrine Tumor Of The Colon	Anorexia, Weight loss	ORPHA:100080
Symptomatic Form Of Hfe-Related Hemochromatosis	Generalized bronze hyperpigmentation, Hyperpigmentation of the skin, Weight loss	ORPHA:465508
Diets-Jongmans Syndrome	Seizure, Gliosis	OMIM:618846
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Poems Syndrome	Paresthesia, Hyperpigmentation of the skin, Hyperesthesia, Weight loss	ORPHA:2905
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Anorexia, Melanocytic nevus, Multiple cafe-au-lait...	ORPHA:1969
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Alg9-Cdg	Cerebellar atrophy, Irritability, Cerebral atrophy	ORPHA:79328
Skin Creases, Congenital Symmetric Circumferential, 1	Cerebellar vermis atrophy, Dandy-Walker malformation	OMIM:156610
Primary Myelofibrosis	Cachexia, Anorexia	ORPHA:824
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Carney-Stratakis Syndrome	Dysphagia, Weight loss	ORPHA:97286
Lathosterolosis	Meningocele, Chiari malformation, Cerebellar cortical atrophy	ORPHA:46059
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Patent ductus arteriosus, Dandy-Walker malformation, Cerebellar dysplasia	ORPHA:487796
Loeffler Endocarditis	Weight loss	ORPHA:75566
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Lethargy, Ataxia	OMIM:252010
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Cachexia, Weight loss, Xanthelasma, Steatorrhea, Hypercholesterolemia, Fail...	ORPHA:275761
Igg4-Related Aortitis	Weight loss	ORPHA:449400
African Trypanosomiasis	Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa...	ORPHA:3385
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, Cerebral atrophy, Seizure, Hypertonia, Dystonia, Failure to thrive	OMIM:617248
Rheumatoid Arthritis	Weight loss	OMIM:180300
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Trichothiodystrophy	Numerous pigmented freckles, Diffuse cerebellar atrophy, Cerebral cortical atrophy, Gait ataxia	ORPHA:33364
Addison Disease	Decreased circulating cortisol level, Salt craving, Anorexia, Weight loss, Failure to thrive, Hyp...	ORPHA:85138
Neuroendocrine Tumor Of The Rectum	Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Weight loss	ORPHA:100082
Silver-Russell Syndrome	Cafe-au-lait spot, Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Aredyld Syndrome	Cachexia	ORPHA:1133
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar...	ORPHA:353277
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Short Syndrome	Weight loss	ORPHA:3163
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Refractory Celiac Disease	Weight loss	ORPHA:398063
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
Pneumocystosis	Weight loss	ORPHA:723
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Weight loss	ORPHA:100085
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Retinal pigmen...	OMIM:219800
Imerslund-Gräsbeck Syndrome	Failure to thrive, Weight loss	ORPHA:35858
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Failure to thrive, Ataxia, Weight loss	ORPHA:99885
Simple Cryoglobulinemia	Paresthesia, Spontaneous pain sensation, Weight loss	ORPHA:91139
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Unsteady gait, Ataxia	ORPHA:67036
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Cachexia	OMIM:610965
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Dysphagia, Weight loss	ORPHA:1018
Somatostatinoma	Increased circulating cortisol level, Weight loss, Anorexia, Steatorrhea	ORPHA:97283
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Al Amyloidosis	Dysphagia, Weight loss	ORPHA:85443
Trisomy 18	Abnormality of retinal pigmentation, Hypertonia, Cachexia, Chiari malformation	ORPHA:3380
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy	OMIM:210730
Behçet Disease	Ataxia, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia	ORPHA:117
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Ppoma	Increased circulating cortisol level, Anorexia, Weight loss	ORPHA:97278
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Gallbladder Neuroendocrine Tumor	Anorexia, Weight loss	ORPHA:100086
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Familial Thrombocytosis	Paresthesia, Weight loss	ORPHA:71493
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Steatorrhea	ORPHA:309031
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Klatskin Tumor	Weight loss	ORPHA:99978
Thymoma	Weight loss	ORPHA:99867
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy	OMIM:270100
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Glucagonoma	Increased circulating cortisol level, Weight loss, Anorexia, Steatorrhea	ORPHA:97280
Cystic Echinococcosis	Weight loss	ORPHA:400
Neuroendocrine Tumor Of Stomach	Anorexia, Weight loss	ORPHA:100075
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Weight loss	ORPHA:537
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Cerebellar cortical atrophy, Bruxism	ORPHA:48652
Schwartz-Jampel Syndrome	Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Attention deficit hyperactivity disorder, ...	ORPHA:800
Caroli Disease	Anorexia, Weight loss	ORPHA:53035
Juvenile Dermatomyositis	Dysphagia, Weight loss	ORPHA:93672
Grfoma	Increased circulating cortisol level, Anorexia, Weight loss	ORPHA:97261
Q Fever	Anorexia, Weight loss	ORPHA:781
Familial Pancreatic Carcinoma	Anorexia, Weight loss	ORPHA:1333
Vipoma	Increased circulating cortisol level, Anorexia, Weight loss	ORPHA:97282
Norrie Disease	Clonus, Cachexia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, ...	ORPHA:649
Mucolipidosis Type Ii	Inability to walk, White hair, Weight loss	ORPHA:576
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Weight loss	ORPHA:49041
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temp...	ORPHA:2072
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Hydrocephalus, Cerebellar cortical atrophy	OMIM:619321
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Polycythemia Vera	Weight loss	ORPHA:729
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Stevens-Johnson Syndrome	Dysphagia, Weight loss	ORPHA:36426
Bannayan-Riley-Ruvalcaba Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation, Cachexia	ORPHA:109
Brucellosis	Small for gestational age, Anorexia, Chorea, Weight loss, Failure to thrive	ORPHA:1304
Camurati-Engelmann Disease	Waddling gait, Ataxia, Cachexia, Anorexia, Slender build	ORPHA:1328
Multiple Myeloma	Paresthesia, Weight loss	ORPHA:29073
Microsporidiosis	Anorexia, Cachexia, Weight loss	ORPHA:2552
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Nijmegen Breakage Syndrome	Freckling, Attention deficit hyperactivity disorder, Cachexia	ORPHA:647
Parathyroid Carcinoma	Polydipsia, Dysphagia, Weight loss	ORPHA:143
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Dysphagia, Weight loss	ORPHA:2020
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Weight loss	ORPHA:913
Multiple Endocrine Neoplasia Type 1	Anorexia, Weight loss, Large cafe-au-lait macules with irregular margins, Increased circulating c...	ORPHA:652
Fanconi Anemia	Hypopigmented skin patches, Weight loss, Abnormality of skin pigmentation, Multiple cafe-au-lait ...	ORPHA:84
Kikuchi-Fujimoto Disease	Ataxia, Anorexia, Weight loss	ORPHA:50918
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Castleman Disease	Weight loss	ORPHA:160
Pancreatoblastoma	Weight loss	ORPHA:677
Cancer-Associated Retinopathy	Granular macular appearance, Diffuse cerebellar atrophy	ORPHA:71505
Cushing Syndrome Due To Ectopic Acth Secretion	Paradoxical increased cortisol secretion on dexamethasone suppression test, Anorexia, Increased b...	ORPHA:99889
Pyomyositis	Weight loss	ORPHA:764
Tropical Pancreatitis	Weight loss	ORPHA:103918
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Immunodeficiency 31C	Weight loss	OMIM:614162
Postinfectious Vasculitis	Anorexia, Weight loss	ORPHA:48435
Seckel Syndrome	Cachexia	ORPHA:808
Rat-Bite Fever	Weight loss	ORPHA:31205
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Malt Lymphoma	Weight loss	ORPHA:52417
Reactive Arthritis	Weight loss	ORPHA:29207
Nocardiosis	Anorexia, Weight loss	ORPHA:31204
Marfan Syndrome	Attention deficit hyperactivity disorder, Slender build, Cachexia	ORPHA:558
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Failure to thrive, Weight loss	ORPHA:90794
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Hypermelanotic macule, Shuffling gait, Weight loss	ORPHA:740
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hydrocephalus	OMIM:175780
Sarcoidosis, Susceptibility To, 1	Anorexia, Weight loss	OMIM:181000
Chronic Graft Versus Host Disease	Abnormality of skin pigmentation, Dysphagia, Anorexia, Weight loss	ORPHA:99921
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Dermatomyositis	Weight loss	ORPHA:221
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Anorexia, Weight loss	ORPHA:91500
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Weight loss	OMIM:619381
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Stickler Syndrome	Hemiplegia/hemiparesis, Slender build, Cachexia	ORPHA:828
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Cachex...	ORPHA:744
Sarcoidosis	Hypopigmentation of the skin, Hyperpigmentation of the skin, Weight loss	ORPHA:797
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Right Atrial Isomerism	Asplenia, Polysplenia	OMIM:208530
Congenital Heart Defects, Multiple Types, 6		OMIM:613854
Tetralogy Of Fallot		ORPHA:3303

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 Cers1

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 Cers1.

No publications found that use IMPC mice or data for Cers1.

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
Cers1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cers1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cers1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cers1 MGI:2136690

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Adult LacZ

X-ray

X-ray

Human diseases caused by Cers1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data