Gene: Rora MGI:104661

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Gene Summary

Name:
RAR-related orphan receptor alpha
Synonyms:
Nr1f1,  9530021D13Rik,  tmgc26

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Roratm1b(EUCOMM)Wtsi HOM   Early adult 0.000176

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Rora mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Pontocerebellar atro... OMIM:618060

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Incoordination, Slurred speech ORPHA:98766
Alg12-Cdg
Cognitive impairment ORPHA:79324
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Cerebellar hypoplasia, Ataxia, Spastic tetraplegia OMIM:618174
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:423296
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Apraxia, Dementia, Ataxia, Cerebellar atrophy, Periventricular leukomalacia, Pr... OMIM:615889
Spinocerebellar Ataxia 37
Frequent falls, Cerebellar atrophy, Tremor, Ataxia OMIM:615945
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Ankle clonus, Lower limb spasticity, Cerebellar atrophy, ... OMIM:611252
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnor... OMIM:615362
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Mental Retardation, Autosomal Recessive 53
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Ataxia OMIM:616917
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity OMIM:616494
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Progressive neurologic deterioration, Diffuse swelling of cer... OMIM:613925
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Hydrocephalus OMIM:604213
Cerebellar Hypoplasia With Endosteal Sclerosis
Cerebellar hypoplasia, Ataxia OMIM:213002
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Nonprogressive cerebellar a... ORPHA:94122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Cognitive impairment, Atrophy/D... OMIM:616192
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Cerebral atrophy, Poor fine motor co... ORPHA:98762
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Difficulty walking, Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia ORPHA:363432
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Progressive cerebellar ataxia, Cerebella... ORPHA:284332
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Polymicrogyria, Cerebellar hypoplasia, Ataxia OMIM:615771
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia, Simplified gyral pattern OMIM:613402
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent falls, Spasti... OMIM:618438
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Bab... OMIM:615768
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Cerebellar atrophy, Tremor, Ataxia OMIM:617917
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Lower limb spasticity, Unste... OMIM:616948
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Dysmetria, Distal sensory i... OMIM:618387
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypertonia, Cerebellar atrophy, Polymicrogyria, Spastic tetraplegia, Lissencephaly OMIM:618730
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Abnormal posturing, Incoordination, Dementia, Chorea, Slurred speech, Po... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615705
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the pons, Cerebellar atrophy, Polymicrogyria, Cerebral palsy, Spasticity OMIM:618973
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Impaired vibra... OMIM:617225
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Cerebellar atroph... OMIM:618090
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Cer... ORPHA:101110
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Cerebellar hypoplasia, Dysmetria, Truncal ataxia OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Progressive i... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Difficulty walking, Cerebral cortical atrophy, Limb tremor, Lower li... ORPHA:401820
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Dementia, Head tremor, Action tremor, Cerebral cortical atrop... OMIM:604326
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Ataxia OMIM:614706
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Ce... OMIM:618468
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Cerebellar hypoplasia, Ataxia, Alopecia, Nail dystrophy OMIM:616353
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Ataxia OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atro... OMIM:617013
Gordon Holmes Syndrome
Dementia, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:212840
Congenital Disorder Of Glycosylation, Type Iw
Cerebellar atrophy OMIM:615596
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal... ORPHA:79262
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... OMIM:162350
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... OMIM:611726
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, I... ORPHA:314978
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Prominent veins on trunk, Oligomenorrhea, Hepatic steatosis, Hyperuricemia, Hypertensi... ORPHA:79083
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Intention tremor, Cerebellar hypopla... OMIM:224050
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebellar atrophy, Torticollis, M... OMIM:614860
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Cerebellar atrophy, Spastic gait... OMIM:610357
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Cognitive impairment, Spasticity OMIM:611105
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Paralysis OMIM:616286
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Abnormal cerebral white matter morphology, Gait disturbance, Leukoenc... OMIM:300660
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Coronary artery atherosclerosis, Polycystic ovaries, Hepatomegaly, Hypertrigly... ORPHA:2348
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Spastic tetraparesis OMIM:618741
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Action tremor, Br... OMIM:300423
Spinocerebellar Ataxia Type 25
Impaired pain sensation, Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, ... ORPHA:101111
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Dystonia, Gait ataxia, Cerebral white matter atrophy, Dementia, ... ORPHA:98756
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Cerebellar hypoplasia, Hypoplasia of the pons OMIM:607313
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Autosomal Recessive Spastic Paraplegia Type 74
Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, Cerebellar ... ORPHA:468661
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosi... OMIM:616981
Morbid Obesity And Spermatogenic Failure
Infertility, Hypercholesterolemia, Azoospermia, Premature coronary artery atherosclerosis, Oligos... OMIM:615703
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia, Polymicrogyria, Spasti... OMIM:611603
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Foam cells with lamellar inclusion bodies, Sea-blue histiocytosi... OMIM:607616
Nescav Syndrome
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Babinski sign... OMIM:614255
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy OMIM:618302
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Dementia, Chorea, Cerebral atrophy, Poor fine motor coordination, A... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... OMIM:611390
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Dysmetria, Intention tremor OMIM:616053
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... ORPHA:496756
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Spinocerebellar Ataxia 25
Abolished vibration sense, Ataxia, Cerebellar atrophy, Babinski sign, Impaired pain sensation OMIM:608703
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cereb... OMIM:220200
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Cerebella... OMIM:607565
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Dementia, Abnormality of extrapyramidal motor function, Ce... OMIM:300894
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Recurrent upper respiratory t... ORPHA:277
Camos Syndrome
Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramidal movement disorder, Spast... ORPHA:83472
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Ataxia OMIM:618383
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Brady... ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia ORPHA:1178
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Dementia, Cerebral atrophy, Abnormal autonomic nervous sys... ORPHA:329284
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity OMIM:143100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Aplasia/Hypoplasia... ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Gait ataxia, Slurred speech OMIM:619323
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnormal pyramid... ORPHA:101070
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Cerebellar hypoplasia, Hypoplasia of the pons OMIM:619303
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Spasticity OMIM:617899
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Ataxia, Cerebellar atrophy, Optic atrophy, Mental deterioration OMIM:610951
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Dementia, Head tremor, Hypoplasia of the corpus callosum, Upp... OMIM:614409
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykines... OMIM:617435
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair, Ataxia OMIM:212835
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Clumsiness OMIM:610003
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ocu... OMIM:615960
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Lead Poisoning
Skin rash, Reduced sperm motility, Decreased pulmonary function, Abnormal sperm morphology, Anemi... ORPHA:330015
Hypomyelination-Congenital Cataract Syndrome
Abnormal cerebellum morphology ORPHA:85163
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Dementia, Chorea, Limb ataxia, Frontal lob... OMIM:607136
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Atopic dermatitis, Increased circulating I... OMIM:618944
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Autosomal Spastic Paraplegia Type 58
Torticollis, Spasticity, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Clon... ORPHA:397946
Alstrom Syndrome
Nephritis, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, Irregul... OMIM:203800
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity OMIM:616654
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Polymicrogyria Due To Tubb2B Mutation
Cortical dysplasia, Hypoplasia of the pons, Cavum septum pellucidum, Oromotor apraxia, Pachygyria... ORPHA:300573
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Chorea, Cere... OMIM:613811
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Frequent falls, Decreased motor nerve conduction velocity, Difficulty wal... OMIM:302800
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dense calcifications in the cerebellar dentate nucleus, Dystonia, Lim... OMIM:213600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Narrow nasal ridge, Accelerated atherosclerosis, Supraventricular arrhyth... ORPHA:280365
Autosomal Recessive Spastic Paraplegia Type 46
Truncal ataxia, Corpus callosum atrophy, Dementia, Head tremor, Upper limb spasticity, Abnormal c... ORPHA:320391
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Corpu... ORPHA:228360
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Waddling gait, Babinski sign, Microcephaly, Spasticity OMIM:619090
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Abnormal periventricular white matter morpholo... OMIM:612319
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Hypopl... ORPHA:98
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity OMIM:617207
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Basal gangli... OMIM:618824
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Mental deterioration, Abnormality of extrapyramidal motor function, Hypoplasia of the c... OMIM:617672
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Spinocerebellar Ataxia Type 17
Dystonia, Mental deterioration, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje laye... ORPHA:98759
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Neutropenia, Abnormal trach... ORPHA:1163
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Choreoathetosis, Ataxia, Cerebellar atrophy, Microcephaly, Optic atrophy, Rigid... OMIM:612438
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Cerebellar atrophy, Ataxia OMIM:618879
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Cerebral cortical atrophy, Progress... ORPHA:314603
Lcat Deficiency
Hemolytic anemia, Hypertension, Atherosclerosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly... ORPHA:650
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Neuron... OMIM:607596
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Spastic paraplegia, Impaired vibratory sensation, Dementia, Abnormality o... ORPHA:100996
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Ceroid Lipofuscinosis, Neuronal, 10
Mental deterioration, Cerebral atrophy, Ataxia, Cerebellar atrophy, Microcephaly, Rigidity, Spast... OMIM:610127
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Cereb... OMIM:600224
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
3-Methylglutaconic Aciduria, Type Vii
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Abnormality of extrapyramidal motor func... OMIM:616271
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Abnormal moto... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Cerebellar atrophy, Ataxia, Distal sensory impairment OMIM:607250
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Ataxia OMIM:616113
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Aminoacylase 1 Deficiency
Cerebellar atrophy OMIM:609924
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Cerebellar vermis hypoplasia, Dandy-Walker mal... OMIM:616901
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Dysmetria, Secondary microcephaly, Opt... OMIM:617954
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy OMIM:608278
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Involuntary mo... OMIM:617804
Glutathionuria
Tremor OMIM:231950
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Cerebellar atrophy, Torticollis... ORPHA:71517
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Abnormal cerebellum morphology, Babinski sign, Leukoencephalopathy, S... OMIM:618242
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, O... ORPHA:330050
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, ... OMIM:613153
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Cerebellar atrophy, Spasticity OMIM:617086
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, Cerebellar atrop... OMIM:617560
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Polycystic ovaries, Menometrorrhagia... ORPHA:90970
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Dystonia, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Abnormal periventricular white matter morphology, Progressive extrapyramidal movement d... ORPHA:513436
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Difficulty walking, Toe walking, Cerebellar... ORPHA:370980
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spastic Paraplegia Type 7
Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Lower limb hypertonia, Cerebr... ORPHA:99013
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Cerebellar hypoplasia, Cerebellar... ORPHA:488635
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Babinski sign, Limb dys... OMIM:619054
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Mucolipidosis Iv
Progressive neurologic deterioration, Dystonia, Hypergastrinemia, Cerebral dysmyelination, Dyspla... OMIM:252650
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Sparse hair, Hirsutism, Cerebellar vermis hypoplasia, Long eyelashes, Atax... OMIM:616819
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyram... ORPHA:527497
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Dystonia, Gait ataxia, Cerebellar atrophy, Dysmetria, Microcephaly, Op... OMIM:617988
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Oculomotor apraxia, Ataxia, Dilated fourt... ORPHA:370022
Filippi Syndrome
Dystonia, Sparse hair, Cerebellar atrophy, Hypertrichosis, Frontal hirsutism OMIM:272440
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Dementia, Poor fine motor coordination, Resting... OMIM:300623
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Episodic Ataxia Type 6
Hemiplegia, Cerebellar atrophy, Slurred speech, Ataxia ORPHA:209967
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... OMIM:618093
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia... OMIM:613155
Peho-Like Syndrome
Pachygyria, Cerebellar atrophy, Polymicrogyria, Myoclonus, Lissencephaly OMIM:617507
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Polymicrogyria, Bilateral Frontoparietal
Truncal ataxia, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Frontal polymicrogyria, Dysmetri... OMIM:606854
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Abnormal cerebral white matter morphology, Ankle clonus, Ata... OMIM:159550
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Gait disturbance, Synophrys, Ataxia, Cerebellar atrophy, Hy... ORPHA:85317
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Pain insensitivity, Ataxia, Cerebellar vermis atrophy, Impaired vibration sensatio... ORPHA:94124
Shukla-Vernon Syndrome
Sparse hair, Cerebellar atrophy, Stereotypy, Attention deficit hyperactivity disorder, Broad-base... OMIM:301029
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Progressive Myoclonic Epilepsy Type 3
Aplasia/Hypoplasia of the corpus callosum, Dementia, Cerebral atrophy, Chin myoclonus, Progressiv... ORPHA:263516
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Gait ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Dysmetria, ... ORPHA:320385
Hypotrichosis 7
Woolly hair, Sparse and thin eyebrow, Sparse hair, Sparse eyelashes OMIM:604379
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Inability to walk, Dystonia, Sparse hair, Hirsutism, Cerebellar hypoplasia, Oculomotor apraxia, A... OMIM:618087
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... OMIM:604091
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy OMIM:618541
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebe... OMIM:615491
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Slurred speech, Lower limb h... OMIM:607259
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Spastic Paraplegia 75, Autosomal Recessive
Corpus callosum atrophy, Spastic paraparesis, Cerebellar atrophy, Babinski sign, Dysmetria, Cogni... OMIM:616680
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Neurofibrillary tangles, Gait ataxia, Dementia, Limb ataxia, Bra... OMIM:137440
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Knee clonus, ... OMIM:275900
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Diffuse cerebellar atrophy, Progressive gait ataxia, Broad-based gait, Diffic... ORPHA:363429
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Abnormal aortic arch morphology... ORPHA:449400
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... ORPHA:280763
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Sparse hair, Alopecia OMIM:617763
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Werner Syndrome
Convex nasal ridge, Ovarian neoplasm, Abnormal testis morphology, Hypertension, Telangiectasia of... ORPHA:902
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Oculomotor apraxia, Cerebellar hypoplasia, Ataxia, Unsteady gait OMIM:618273
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Basal ganglia calcification, Cerebel... OMIM:616505
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Primary amenorrhea, Hyposmia, Decreased testicular size, Mi... OMIM:614897
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotro... OMIM:614837
Neurodegeneration With Brain Iron Accumulation 4
Tremor, Dystonia, Dementia, Abnormality of extrapyramidal motor function, Gait disturbance, Abnor... OMIM:614298
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Atheroscler... OMIM:603813
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Abnormality of extrapyramidal motor function, Progressive cerebellar ataxia,... ORPHA:98773
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Tetraparesis, Ataxia, Cerebellar atrophy, Microcephaly, Atheto... OMIM:619310
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Anosmia, Primary amenorrhea, Hyposmia, Hypogonadotropic hy... OMIM:612702
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Lower limb spasticity, Cerebellar atrophy, Babinski sign ORPHA:139480
Kohlschutter-Tonz Syndrome
Dementia, Cerebral atrophy, Cerebellar hypoplasia, Ataxia, Spasticity OMIM:226750
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
Bardet-Biedl Syndrome 19
Hypogonadism, Hyposmia, External genital hypoplasia OMIM:615996
Spinocerebellar Ataxia Type 1
Dystonia, Abnormal nerve conduction velocity, Impaired proprioception, Memory impairment, Abnorma... ORPHA:98755
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dystonia, Hypertonia, Cerebral calcification, Myocl... OMIM:261630
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Rigidity OMIM:617836
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Abnormal upper motor neuron... OMIM:607694
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Hereditary Pulmonary Alveolar Proteinosis
Foam cells, Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requ... ORPHA:264675
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyrami... OMIM:617951
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Hypertonia, Ataxia, Cerebellar atrophy, ... OMIM:618356
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Axonal degeneration, Dystonia, Dementia, Mental deterioratio... OMIM:208920
Pontocerebellar Hypoplasia, Type 2B
Hypoplasia of the brainstem, Dystonia, Clonus, Hypoplasia of the corpus callosum, Chorea, Cerebra... OMIM:612389
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Decreased serum iron, Hypereosinophili... OMIM:212050
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Alopecia universalis, Sparse body hair, Memory im... ORPHA:1008
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Progressive neurologic deterioration, Hypertonia, G... ORPHA:1192
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholest... OMIM:144300
Adult Krabbe Disease
Progressive neurologic deterioration, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evo... ORPHA:206448
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Arteriosclerosis, Hepatomegaly, Hypertriglyceridemia, Jaundice, ... ORPHA:75234
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Ab... ORPHA:99027
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Azoospermia, Hypergonadotropic hypogonadism, Hypertension, ... ORPHA:280679
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Huntington Disease
Bradyphrenia, Abnormal libido, Memory impairment, Abnormality of the sense of smell, Mental deter... ORPHA:399
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Dandy-Walker malformation, Superior cerebellar dyspl... OMIM:617622
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Recurrent sinopulmonary infect... OMIM:147060
Combined Oxidative Phosphorylation Deficiency 45
Abnormal cerebral white matter morphology, Tremor, Ataxia OMIM:618951
Hyperlipoproteinemia, Type Iv
Precocious atherosclerosis, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypop... OMIM:144600
Hypertriglyceridemia 1
Precocious atherosclerosis, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypop... OMIM:145750
Tangier Disease
Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Myocardial infarction, Splenomega... OMIM:205400
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Unsteady gait, Dysmetria OMIM:614867
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Cerebellar atrophy ORPHA:276183
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Abnormal cerebe... ORPHA:458803
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Dementia, Abnormal cerebral white matter morphology, Abnormal py... ORPHA:447753
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... OMIM:604391
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Hypertonia, Abnormal cerebellum morpholog... OMIM:618056
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Vasculitis in the skin, Decreased proportion of CD4-positive h... ORPHA:443811
Coffin-Siris Syndrome 3
Sparse hair, Hirsutism, Cerebellar hypoplasia, Long eyelashes, Sparse scalp hair, Thick eyebrow, ... OMIM:614608
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular ... OMIM:610628
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia, Cerebellar atrophy, Leukoencephalopathy, Babinski sign, Optic atrophy... OMIM:618226
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholestero... OMIM:245900
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Absent frontal sinuses, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, A... OMIM:244400
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Pontocerebellar atro... OMIM:618060
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Babinski sign, Distal sensory impairment... OMIM:612674
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Dystonia, Positive Romberg sign, Clumsiness, Autonomic bladder dysfunction, Hypo... ORPHA:447896
Familial Paroxysmal Ataxia
Hemiplegia, Dystonia, Ataxia, Torticollis, Cerebellar vermis atrophy ORPHA:97
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Anosmia, Primary amenorrhea OMIM:614858
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Tremor, N