Gene Summary

Name:
calcium and integrin binding family member 2
Synonyms:
calcium binding protein Kip2,  2810434I23Rik

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
increased circulating triglyceride level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 1.17×10-07
increased circulating HDL cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 9.99×10-06
increased basophil cell number Cib2tm1b(EUCOMM)Wtsi HOM Early adult 8.80×10-05
decreased prepulse inhibition Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.00×10-21
abnormal auditory brainstem response Cib2tm1b(EUCOMM)Wtsi HOM   Early adult 2.79×10-05
decreased startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 4.43×10-06
limb grasping Cib2tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
increased circulating cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-06
increased circulating fructosamine level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.23×10-06
abnormal startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.54×10-21
tremors Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.60×10-05
abnormal ear morphology Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.72×10-10

Download data as:  TSV  XLS

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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% (3 of 3)
Brainstem  Wholemount images heterozygote 66.67% (2 of 3)
Brown adipose tissue  Wholemount images heterozygote 66.67% (2 of 3)
Cerebral cortex  Wholemount images heterozygote 100% (3 of 3)
Hippocampus  Wholemount images heterozygote 100% (3 of 3)
Hypothalamus  Wholemount images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images heterozygote 100% (3 of 3)
Spinal cord  Wholemount images heterozygote 66.67% (2 of 3)
Testis  Wholemount images heterozygote 33.33% (1 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Bone N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Kidney N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Oral epithelium N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 66.67% (2 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 66.67% (2 of 3)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote Ambiguous
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 66.67% (2 of 3)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 66.67% (2 of 3)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote Not available
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote Not available
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Not available

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

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

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

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

Anatomy Background staining in controls(WT)
brain 1.36% (6 of 440)
ear 0.0%
embryo 0.22% (1 of 458)
eye 0.22% (1 of 457)
footplate 0.21% (1 of 466)
forebrain 0.22% (1 of 455)
forelimb 0.22% (1 of 452)
handplate 0.22% (1 of 460)
head 0.87% (4 of 461)
heart 0.22% (1 of 455)
hindbrain 1.08% (5 of 463)
hindlimb 0.0%
liver 0.22% (1 of 454)
lung 0.22% (1 of 453)
mandibular process 0.0%
maxillary process 0.22% (1 of 445)
midbrain 0.22% (1 of 458)
oral cavity 0.22% (1 of 451)
skin 0.22% (1 of 458)
tail 0.22% (1 of 465)
tail somite group 0.22% (1 of 455)

Associated Images

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

Echo

M-Mode Images

79 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

X-ray

XRay Images Hind Leg and Hip

22 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Auditory Brain Stem Response

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

3 Images

Human diseases caused by Cib2 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 Cib2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cib2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Episodic Ataxia, Type 1
Elevated circulating creatine kinase concentration, Tremor, Slurred speech, Spastic gait, Babinsk... OMIM:160120
Optic Atrophy 2
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis OMIM:311050
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceridemia, Myoclonu... OMIM:615924
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase, Hearing impairment OMIM:614369
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Tremor, Giant somatosensory e... OMIM:601068
Deafness, Autosomal Recessive 48
Profound sensorineural hearing impairment, Abnormal vestibular function OMIM:609439
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impa... OMIM:144300
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, EEG with polyspike wave complexes, Enhancemen... OMIM:615127
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairment, Tremor, Opti... OMIM:165300
Spastic Paraparesis And Deafness
Tremor, Hearing impairment, Spastic paraparesis OMIM:312910
Epilepsy, Familial Adult Myoclonic, 3
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Tremor, Giant somatosensory e... OMIM:613608
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Sandhoff Disease, Adult Form
Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Tremor, Gait atax... ORPHA:309169
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Granulocytopenia OMIM:608898
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Spasticity, Ataxia OMIM:611105
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Progressive cerebellar ataxia, Ataxia, Clumsiness, Abnor... OMIM:277460
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating a... ORPHA:64753
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly OMIM:619175
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Ataxia, Elevated circulating creatine kinase concentration, Chor... OMIM:208920
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... OMIM:607616
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Sensorineural hearing impairment, Elevated circulating creatine kinase conc... OMIM:610717
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Ataxia, Hemolytic anemia, EEG abnormality, Splenomega... OMIM:612126
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Ataxia-Oculomotor Apraxia 4
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Elevated circulating alpha-fetoprotein conce... OMIM:616267
Epilepsy, Progressive Myoclonic 7
Tremor, EEG with generalized epileptiform discharges, Myoclonus, Ataxia OMIM:616187
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Limb dystonia, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceri... ORPHA:363400
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Elevated circulating creatine kinase concentration, T... ORPHA:276435
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Myoclonus, Action tremor OMIM:614937
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Lower limb spasticity, Parkinsonism with favorable response to dopaminergic medicat... OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Adult onset sensorineural hearing impairment... ORPHA:1368
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Hypermanganesemia, Tremor, Bradykinesia, Or... ORPHA:521406
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus, Interictal epileptiform activity OMIM:615400
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Low-frequency sensorineural h... OMIM:613101
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Decreased motor nerve conduction velocity, Hearing impairment, Head tremor, Intentio... OMIM:613724
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Hypercholesterolemia, Ataxia, Hypoalbuminemia ORPHA:94124
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment ORPHA:79234
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia OMIM:245900
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Fatiguable weakness of proximal limb muscles, Limb fasc... ORPHA:90117
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Absent brainstem auditory responses, Ankle clonus, Apraxia, Generalized ... ORPHA:52368
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Fasciculations ORPHA:65684
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Hemiballismus, Frequent falls, Chorea ORPHA:494526
Hyperphenylalaninemia, Bh4-Deficient, C
Hyperphenylalaninemia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Developmental And Epileptic Encephalopathy 97
Tremor, Hypsarrhythmia OMIM:619561
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Decreased amplitude of sensory a... OMIM:619279
Epilepsy, Progressive Myoclonic, 6
EEG with spike-wave complexes, Ataxia, Elevated circulating creatine kinase concentration, Tremor... OMIM:614018
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Low-set ears, Ataxia, Ankle clonus, Posteriorly rotated ears, Exaggerate... OMIM:618598
Distal Myopathy, Tateyama Type
Clumsiness, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Sensorineural hearing i... ORPHA:363710
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy OMIM:617519
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Abnormal circulating calcium concentration, Rigidity, Athe... OMIM:213600
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Ataxia, Hearing impairment ORPHA:101075
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Splenomegaly OMIM:306000
Leukodystrophy, Hypomyelinating, 13
Spasticity, Ataxia, Clonus, Exaggerated startle response, Prolonged brainstem auditory evoked pot... OMIM:616881
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Increased circulating very long-cha... OMIM:614307
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Ataxia, Lower limb spasticity, Tr... OMIM:617916
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Chorea, Tremor, Gait ataxia, Myoclonus, EEG with polyspike wave co... OMIM:618587
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hearing impairment ORPHA:181393
Cystathioninuria
Tremor, Cystathioninemia, External ear malformation ORPHA:212
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment ORPHA:101078
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Ataxia, Blepharospasm, Tremor... OMIM:607876
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Absent brainstem auditory responses, Vestibular areflexia, Head titubation, ... ORPHA:3240
Spinocerebellar Ataxia 50
Froment sign, Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Hearing impairment, Action t... OMIM:620158
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hypertriglyceridemia, Pancytopenia, Increased circulating ferr... OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemi... OMIM:615558
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... OMIM:616828
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Ataxia, Clumsiness, Hemiplegia, D... ORPHA:206443
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Ataxia OMIM:618951
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperlipidemia, Tetraplegia, Fasciculations, Mildly elevated creatine kinase OMIM:604484
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor, Bradyk... OMIM:607688
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegi... ORPHA:251282
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Ataxia, Hemophagocytosis, A... OMIM:267700
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Tremor, Choreoathetosis,... OMIM:612716
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Dysmetria OMIM:618387
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia, Action tremor ORPHA:77296
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Decreased sensory nerve conduction velocity, Leukocytosis, Motor conduction block... ORPHA:206594
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia, EEG with temporal focal spikes ORPHA:163985
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Paraparesis, Abnormal nerve conduction velocity, Tremor, Hearing impairment, Optic atrophy ORPHA:99014
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Hearing impairment, Tremor, Myoclonus, Dy... ORPHA:139485
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Developmental And Epileptic Encephalopathy 32
Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus, Ataxia OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, EEG abnormality, Ataxia OMIM:617831
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... OMIM:617145
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Writer's cramp, Tremor, Chorea, Bradyk... OMIM:606159
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... ORPHA:99027
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Elevated circulating creatine kinase concentration, Tremor, Facial palsy, Myoclon... OMIM:159950
Urocanic Aciduria
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Action tremor, Truncal ataxia ORPHA:210128
Corticobasal Syndrome
Limb dystonia, Limb myoclonus, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Saccharopinuria
Hyperammonemia, Spastic diplegia, Elevated plasma citrulline, Tremor, Gait ataxia, Hypercystinemi... ORPHA:3124
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal movement disorder, Chorea, Hearing impairment, Resting tremor,... ORPHA:401768
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... ORPHA:247585
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, EEG with generalized slow activity grade 4, Ataxia, Clumsiness, Cho... ORPHA:79263
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Tremor, Sensorineur... OMIM:614867
Galactokinase Deficiency
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Speech apraxia, S... ORPHA:79237
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia OMIM:128235
Hypermanganesemia With Dystonia 1
Parkinsonism, Polycythemia, Abnormality of extrapyramidal motor function, Hypermanganesemia, Rigi... OMIM:613280
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Optic... ORPHA:329284
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Hsd10 Disease
Ataxia, Rigidity, Hearing impairment, Tremor, Myoclonus, Optic atrophy, Choreoathetosis, Spastic ... ORPHA:391417
Smith-Magenis Syndrome
EEG abnormality, Hearing impairment, Hypertriglyceridemia, Morphological abnormality of the middl... OMIM:182290
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Dysdiadoch... OMIM:618049
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineural hearing impairme... OMIM:610185
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Hepatosplenomegaly, Limb myoclonus, Eyelid myoclonus, High-frequency sensorineura... ORPHA:2590
Cog4-Cdg
Hepatosplenomegaly, Ataxia, Limb hypertonia, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor fine motor coordination, Hypercholesterolemia ORPHA:254531
Neuroectodermal Melanolysosomal Disease
Spasticity, Ataxia, Rigidity, Tremor, Optic atrophy, Hypertonia ORPHA:33445
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, EEG abnormality, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria OMIM:617810
Developmental And Epileptic Encephalopathy 68
Spasticity, Exaggerated startle response, Myoclonus, Clonus OMIM:618201
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Hyperphenylalaninemia, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hyp... OMIM:261640
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Macrotia OMIM:616269
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Rigidity, Tremor, Choreoathetosis... OMIM:233910
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia OMIM:616222
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Splenomegaly, Dystonia OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Ataxia, Hemophagocytosis, Anemia, Hemiplegia, In... OMIM:603553
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Developmental And Epileptic Encephalopathy 42
Ataxia, EEG abnormality, Athetosis, Tremor, Hypertonia OMIM:617106
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Anemia, Hypertriglyceridemia, Pancytopenia, Increased circulating ferritin conc... OMIM:618398
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... OMIM:278000
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hemolytic anemia OMIM:177000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Optic disc pallor, Exaggerated startle response, Spastic paraplegia, Babinski sign,... OMIM:609541
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Ataxia, Rigidity, Decreased motor nerve conduction v... OMIM:603472
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Facial diplegia, Elevated circulating apo... OMIM:205400
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Multiple System Atrophy
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... ORPHA:102
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Ataxia, Elevated circulating creatine kinase concentration, Tremor... OMIM:619473
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity OMIM:607734
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Tremor, Gait ... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Titubation, Elevated circulating creatine kinase concentration, Tremor, Increased serum p... OMIM:619405
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... ORPHA:158061
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Tre... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Myopathy With Extrapyramidal Signs
Frequent falls, Leukocytosis, Ataxia, Clonus, Clumsiness, Hypervalinemia, Abnormality of extrapyr... OMIM:615673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypertriglyceridemia, Sensorineural hearing impairment, Hypoalbuminemia OMIM:617575
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... OMIM:617013
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Spastic tetraplegia, Optic nerve hypoplasia, Chorea, Exaggerated startle response, EE... OMIM:617864
Chronic Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypertonia, Abnormal auditory evoked potentials, Sensorineural h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hemolytic anemia, Hypertonia, Abnormal auditory evoked potentials, Sensorineural h... ORPHA:529799
Ch├ędiak-Higashi Syndrome
Vacuolated lymphocytes, Hemophagocytosis, Increased circulating ferritin concentration, Hepatospl... ORPHA:167
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing i... OMIM:619260
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia OMIM:619013
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia ORPHA:306669
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Optic atrophy, Choreoathetosis, Dystonia OMIM:612438
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Hand tremor, Paraparesis, Decreased motor nerve conduction velocity, Tremor, Sens... OMIM:302800
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Charcot-Marie-Tooth Disease And Deafness
Tremor, Sensorineural hearing impairment, Decreased motor nerve conduction velocity OMIM:118300
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, EEG with generalized sl... OMIM:300055
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... OMIM:238600
Tay-Sachs Disease
Frequent falls, Hepatosplenomegaly, Progressive spasticity, Clumsiness, Ankle clonus, Decerebrate... ORPHA:845
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia, Splenomegaly OMIM:616719
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... ORPHA:240085
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:618620
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hand tremor, Hemiparesis, Axial dystonia, Clumsiness,... OMIM:612953
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cln5 Disease
Spasticity, EEG with spike-wave complexes, Ataxia, Poor gross motor coordination, Clumsiness, Abn... ORPHA:228360
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Low-set ears, Spastic paraplegia ORPHA:477673
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Progressive sensorineural hearing impairment, Postlingual sensorineural heari... OMIM:304700
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Ataxia, Prolonged brain... ORPHA:206448
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Optic disc pallor, Abnormality of extrapyramidal motor function, ... ORPHA:320406
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Myoclonus, Ataxia OMIM:616494
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Ataxia, Tremor, Gait ataxia, Large fleshy ears, Myoclonus, Overfolded helix, Hypert... OMIM:619092
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Sensorineural hear... ORPHA:540
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer... ORPHA:158048
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, EEG with persistent abnormal rhythmic act... ORPHA:282166
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... ORPHA:53351
Dopa-Responsive Dystonia
Parkinsonism, Leg dystonia, Poor coordination, Oculogyric crisis, Generalized dystonia, Abnormali... ORPHA:255
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Tremor, Mildly e... ORPHA:397744
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia OMIM:619738
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Chorea, Exaggerated startle response, Progressive spastic quadriplegia, ... ORPHA:309246
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia ORPHA:70594
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria OMIM:614831
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb hypertonia, Limb tremor, Oculogyric crisis, Athet... OMIM:608643
Atypical Rett Syndrome
Spasticity, Limb myoclonus, EEG abnormality, Apraxia, Tremor, Gait ataxia, Pill-rolling tremor, H... ORPHA:3095
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Chorea, Exaggerated startle response, Paralysis, Spastic tetraparesis, H... OMIM:272750
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
4H Leukodystrophy
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... ORPHA:289494
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Asparagine Synthetase Deficiency
Spastic tetraplegia, Hypsarrhythmia, Limb hypertonia, Exaggerated startle response, EEG with burs... OMIM:615574
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia, Dystonia OMIM:617435
Aceruloplasminemia
Decreased serum iron, Torticollis, Limb ataxia, Parkinsonism, Ataxia, Blepharospasm, Decreased ci... ORPHA:48818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, EEG abnormality, Spasticity, Low-set ears OMIM:618718
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Progressive hearing impairment, Ataxia, Optic disc pallor, Abn... ORPHA:97229
Developmental And Epileptic Encephalopathy 46
Tremor, Hypsarrhythmia, Limb hypertonia OMIM:617162
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... OMIM:618877
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Ataxia, EEG abnormality, Sensorineural hearing impairment, Hypercholesterolemia ORPHA:2479
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Hand tremor, Absent brainstem auditory responses, Decreased nerve conduction velocit... ORPHA:101085
Smith-Magenis Syndrome
Hypertriglyceridemia, EEG abnormality, Conductive hearing impairment, Hypercholesterolemia ORPHA:819
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Behr Syndrome
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ata... OMIM:210000
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Torsion dystonia, Blepharospasm OMIM:224500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Progressive cerebellar ataxia, Clumsiness, Spastic ataxia, Tremor, Hearin... ORPHA:137898
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Tremor, Hyperbilir... ORPHA:713
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... OMIM:618056
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Abnormal granulocyte morphology, Abnormal circulating creatine kinase concentration, Hype... ORPHA:98907
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline OMIM:603471
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Sensorineural hearing impairment, Anemia ORPHA:1192
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dystonia, Dysmetria OMIM:607694
Megalocornea-Mental Retardation Syndrome
Poor coordination, Ataxia, Large fleshy ears, Cupped ear, Hypercholesterolemia OMIM:249310
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign OMIM:616795
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Rigidit... ORPHA:99750
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Hypsarrhythmia, Ataxia, Limb hypertonia, Rigidity, Tremor, Abnormality of coordinatio... ORPHA:442835
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Poor fine motor coordination, Hypercholesterolemia ORPHA:96184
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... ORPHA:66628
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Oculomotor apraxia, EEG abnormality, Tremor, Gait ataxia, Optic atrophy, Dysmetria ORPHA:529665
Stiff-Person Syndrome
Frequent falls, Myoclonic spasms, Anemia, Rigidity, Exaggerated startle response, Opisthotonus OMIM:184850
Hyperekplexia 1
Frequent falls, Exaggerated startle response, Hypertonia, Myoclonus OMIM:149400
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Facial palsy, Oromandib... OMIM:128100
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment OMIM:615381
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria ORPHA:1170
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotensio... ORPHA:179494
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Hypsarrhythmia, Tremor, Spastic paraplegia, EEG with burst suppression, Chor... OMIM:612164
Generalized Epilepsy With Febrile Seizures-Plus
EEG with spike-wave complexes, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Incoor... ORPHA:36387
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Griscelli Syndrome Type 1
Hyperlipidemia, Hypertonia, Ataxia ORPHA:79476
Microtriplication 11Q24.1
Hyperkinetic movements, Attached earlobe, Posteriorly rotated ears, Speech apraxia, Hearing impai... ORPHA:289522
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Tremor, Resting tremor, Focal EEG discharges with secondary generalization, Lower l... ORPHA:3077
Infantile Krabbe Disease
Spasticity, Ankle clonus, Decreased nerve conduction velocity, Spastic diplegia, Hearing impairme... ORPHA:206436
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... OMIM:615947
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Dysdiadochok... ORPHA:101
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Tetanus
Spasticity of pharyngeal muscles, Autonomic bladder dysfunction, Abnormal autonomic nervous syste... ORPHA:3299
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, H... OMIM:312080
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... ORPHA:352649
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, Hypertonia, ... ORPHA:96
Cockayne Syndrome Type 1
Ataxia, Anemia, Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impai... ORPHA:90321
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria OMIM:615578
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Facial diplegia, Decreased nerve conduction velocity, Tremor, Fasci... ORPHA:329478
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Dysto... OMIM:300894
Developmental And Epileptic Encephalopathy 49
Spasticity, Spastic tetraplegia, EEG abnormality, Facial-lingual fasciculations, Exaggerated star... OMIM:617281
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Elevated circulating alpha-fetoprotein ... OMIM:606002
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... ORPHA:98863
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... ORPHA:98773
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Increased LDL cholesterol concentration, Vocal cord paralysis, Elevated cir... ORPHA:98853
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski sign, Optic atrophy, Hypertoni... OMIM:616505
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Sandhoff Disease, Infantile Form
Spasticity, Exaggerated startle response, Hepatosplenomegaly, Myoclonus ORPHA:309155
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination OMIM:608768
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Spastic tetraplegia, Ataxia, Limb hypertonia, Athetosis, Tremor, Thrombocytopenia, Optic atrophy,... OMIM:617710
Sneddon Syndrome
Tremor, Facial palsy, Hemiplegia, Lymphopenia OMIM:182410
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... OMIM:614298
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, At... ORPHA:247234
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Tetraparesis, Increased circulating inosine... OMIM:613179
Griscelli Syndrome Type 2