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Gene: Cib2 MGI:1929293

Gene Summary

Name:

calcium and integrin binding family member 2

Synonyms:

calcium binding protein Kip2, 2810434I23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating HDL cholesterol level	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.99×10^-06
abnormal ear morphology	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.72×10^-10
abnormal startle reflex	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.54×10^-21
increased circulating cholesterol level	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.14×10^-06
abnormal auditory brainstem response	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.79×10^-05
tremors	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.60×10^-05
increased circulating triglyceride level	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.17×10^-07
decreased startle reflex	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.43×10^-06
decreased prepulse inhibition	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.00×10^-21
increased circulating fructosamine level	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.23×10^-06
limb grasping	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.01×10^-06
increased basophil cell number	Cib2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.59×10^-05

Download data as: TSV XLS

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

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

Echo

M-Mode Images

79 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

View images

Adult LacZ

LacZ Images Wholemount

7 Images

View images

X-ray

XRay Images Hind Leg and Hip

22 Images

View images

Auditory Brain Stem Response

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

3 Images

View 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.

Human diseases associated with Cib2 (3 diseases)
Human diseases predicted to be associated with Cib2 (569 diseases)

The table below shows human diseases associated to Cib2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 48	Abnormal vestibular function, Profound sensorineural hearing impairment	OMIM:609439
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Usher Syndrome, Type Ij	Abnormal vestibular function	OMIM:614869

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Hearing impairment	OMIM:614369
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Deafness, Autosomal Recessive 48	Abnormal vestibular function, Profound sensorineural hearing impairment	OMIM:609439
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen...	OMIM:615127
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul...	ORPHA:309169
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Hearing impairment, Gait ataxia	ORPHA:217012
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i...	OMIM:165300
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma...	OMIM:613608
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Spastic Paraparesis And Deafness	Tremor, Hearing impairment, Spastic paraparesis	OMIM:312910
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan...	OMIM:277460
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Truncal ataxia, Limb ...	OMIM:208920
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Neutral Lipid Storage Disease With Myopathy	Sensorineural hearing impairment, Hypertriglyceridemia, Elevated circulating creatine kinase conc...	OMIM:610717
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, EEG abnormality...	OMIM:612126
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst...	ORPHA:98807
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi...	OMIM:616267
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges	OMIM:616187
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia, Ataxia	OMIM:607250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax...	ORPHA:363400
Stxbp1-Related Encephalopathy	Ataxia, EEG with abnormally slow frequencies, Tremor, Spastic tetraplegia, Multifocal epileptifor...	ORPHA:599373
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Abnormal sensory nerve conduction vel...	ORPHA:276435
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Decreased nerve conduction velocity, Sensorineural hearing impairment, Hypertonia...	ORPHA:1368
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis, Hearing impairment, Elevated circulating ...	OMIM:613724
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
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, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 20	Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia	ORPHA:94124
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment	ORPHA:79234
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia	OMIM:245900
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Fatiguable weakness of proximal limb ...	ORPHA:90117
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness	ORPHA:488650
Monomelic Amyotrophy	Tremor, Fasciculations, Abnormality of peripheral nerve conduction	ORPHA:65684
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, EEG with spike-wav...	OMIM:614018
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Spastic te...	OMIM:618598
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Developmental And Epileptic Encephalopathy 97	Tremor, Hypsarrhythmia	OMIM:619561
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia	OMIM:261630
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Spinocerebellar Ataxia Type 37	Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Trunc...	ORPHA:363710
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Hypertonia, Spas...	OMIM:609260
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:101075
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Hearing impairment, Limb dystonia	OMIM:620270
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat...	OMIM:614307
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi...	OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Decreased nerve conduction velocity, Ataxia, Hearing impairment	ORPHA:101078
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co...	OMIM:607876
Cystathioninuria	Tremor, External ear malformation, Cystathioninemia	ORPHA:212
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Spinocerebellar Ataxia 50	Ataxia, Postural tremor, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Tetraplegia, Hand tremor, Fasciculations, Mildly elevated creatine kinase	OMIM:604484
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia, Low-set ears	OMIM:618951
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Spinocerebellar Ataxia Type 12	Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo...	ORPHA:98762
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Action tremor	ORPHA:77296
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia	OMIM:617836
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy, Spasticity	OMIM:300983
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Spinocerebellar Ataxia With Epilepsy	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:254881
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response, Hypertonia	ORPHA:163985
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa...	ORPHA:139485
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction velocity, Hearing impairment	ORPHA:99014
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz)	OMIM:616366
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, EEG abnormality, Ataxia, Gait ataxia	OMIM:617831
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Blepha...	OMIM:606159
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Tongue fasciculations, ...	OMIM:159950
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Urocanic Aciduria	Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Dystonia, Progressive extra...	ORPHA:401768
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto...	ORPHA:454887
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Infantile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi...	ORPHA:79263
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous...	ORPHA:329284
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut...	OMIM:618049
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Sensorineural hearing impairment, Elevated circulating phytanic acid concentratio...	OMIM:614867
Galactokinase Deficiency	Speech apraxia, Sensorineural hearing impairment, Hepatosplenomegaly, Increased level of galactit...	ORPHA:79237
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Ab...	OMIM:613280
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Tremor, Sensorineural hearing impairment, Eyelid...	ORPHA:2590
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdiadochokinesis, Tru...	OMIM:610185
Cog4-Cdg	Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia	ORPHA:263501
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Hearing impairment, EEG abnormality	OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Macrotia	OMIM:616269
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Poor fine motor coordination, Hypercholesterolemia	ORPHA:254531
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Myoclonus, Spastic paraparesis, Hearing...	ORPHA:391417
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity	ORPHA:33445
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Spasticity, Myoclonus	OMIM:618201
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity	OMIM:617810
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype...	OMIM:261640
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Hyperphenylalaninemia, Limb ...	OMIM:233910
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears	OMIM:616222
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto...	OMIM:606703
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia	OMIM:617106
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr...	OMIM:615157
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia...	OMIM:609541
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Decreased sensory nerve cond...	OMIM:603472
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Oculopharyngodistal Myopathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm...	OMIM:619473
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity	OMIM:607734
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C...	OMIM:615673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Reni Syndrome	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Hypoalbuminemia, Lymphopenia	OMIM:617575
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529799
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Hypermanganesemia With Dystonia 2	Limb dystonia, Generalized dystonia, Hypermanganesemia, Elevated circulating creatine kinase conc...	OMIM:617013
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Multifocal epilep...	ORPHA:228360
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Chorea, Spastic tetraplegia, Hypertonia, Sp...	OMIM:617864
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Sensorineural hea...	OMIM:302800
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Charcot-Marie-Tooth Disease And Deafness	Tremor, Decreased motor nerve conduction velocity, Sensorineural hearing impairment	OMIM:118300
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Tremor, Macrotia, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio...	OMIM:612953
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Increased serum beta-hexosaminidase, Tremor, Optic ...	ORPHA:845
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ...	ORPHA:309246
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Low-set ears, Spastic paraplegia	ORPHA:477673
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Dystonia, Progressive sensorineural hearing...	OMIM:304700
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Abnormality of extrapyramidal mot...	ORPHA:320406
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia	OMIM:617744
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Hypertonia, Myoclonus, Low-set ears, Overfolded h...	OMIM:619092
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ...	ORPHA:282166
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Limb myoclonus, Gait ataxia, Pill-rolling tremor, EEG ab...	ORPHA:3095
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Bilateral sensorineural hearin...	ORPHA:397744
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Anemia	OMIM:184850
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:614831
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystonia, Spasticity	OMIM:617435
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Progressive hearing impairment, Myoclonus, Abnor...	ORPHA:97229
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614618
Developmental And Epileptic Encephalopathy 46	Tremor, Hypsarrhythmia, Limb hypertonia	OMIM:617162
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Tremor, EEG abnormality, Spasticity, Low-set ears	OMIM:618718
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia	ORPHA:2479
Smith-Magenis Syndrome	Conductive hearing impairment, Hypercholesterolemia, Hypertriglyceridemia, EEG abnormality	ORPHA:819
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br...	OMIM:618877
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c...	ORPHA:36387
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spasticity, Truncal ataxia, ...	OMIM:210000
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Optic atrophy, Clumsiness, Poor fine motor...	ORPHA:137898
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Hearing impairment	OMIM:620327
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Sensorineural hearing impairment, Abnormal granulocyte morphology, ...	ORPHA:98907
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Babinski...	ORPHA:206448
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Neuhauser Syndrome	Ataxia, Poor coordination, Cupped ear, Large fleshy ears, Hypercholesterolemia	OMIM:249310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Poor fine motor coordination, Hypercholesterolemia	ORPHA:96184
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Spasticity	OMIM:607694
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Sensorineural hearing impairment, Hypertonia, Anemia	ORPHA:1192
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Hyps...	ORPHA:442835
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio...	ORPHA:66628
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor apraxia, Spasticity	ORPHA:529665
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babinski sign, Torsion d...	OMIM:128100
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Hyperekplexia 1	Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls	OMIM:149400
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio...	ORPHA:179494
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Hypertriglyceridemia	OMIM:615381
Developmental And Epileptic Encephalopathy 4	Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor...	OMIM:612164
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	ORPHA:209335
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Griscelli Syndrome Type 1	Hyperlipidemia, Hypertonia, Ataxia	ORPHA:79476
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol...	OMIM:300894
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Brain Dopamine-Serotonin Vesicular Transport Disease	Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas...	ORPHA:352649
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction...	ORPHA:206436
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Lower limb spasticity, Parkinsonism, Focal EEG discharges with secondary generali...	ORPHA:3077
Asparagine Synthetase Deficiency	Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, Simple ear, EEG with burst ...	OMIM:615574
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculations, Frequ...	ORPHA:329478
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet...	ORPHA:101
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Hearing impairment	OMIM:620114
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti...	OMIM:312080
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ...	OMIM:617281
Microtriplication 11Q24.1	Speech apraxia, Attached earlobe, Posteriorly rotated ears, Hyperlipidemia, Hyperkinetic movement...	ORPHA:289522
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Tetanus	Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, A...	ORPHA:3299
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Abnorm...	ORPHA:90321
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria	OMIM:615578
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir...	ORPHA:98853
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response	ORPHA:3198
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El...	OMIM:606002
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly	ORPHA:309155
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Inte...	OMIM:616505
Sneddon Syndrome	Tremor, Lymphopenia, Hemiplegia, Facial palsy	OMIM:182410
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hypertonia, Hemophagocytosis, Neutropenia	ORPHA:79477
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, T...	OMIM:617710
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine concentration,...	OMIM:613179
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv...	ORPHA:247234
Spinocerebellar Ataxia Type 27	Tremor, Limb ataxia, Hand tremor, Gait ataxia, Truncal ataxia	ORPHA:98764
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Ataxia, Hepatosplenomegaly, Fasciculations...	OMIM:268800
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Classic Phenylketonuria	Tremor, Paraplegia, Hypertonia, Hyperphenylalaninemia, Hemiplegia	ORPHA:79254
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:614381
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairme...	ORPHA:812
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Non-Functioning Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Tremor, Cranial nerve compression, Vocal cord paralysis, Condu...	ORPHA:94080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hypertriglyceridemia	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Cerebrotendinous Xanthomatosis	Resting tremor, Optic disc pallor, Dystonia, Ataxia, Parkinsonism, Abnormal auditory evoked poten...	ORPHA:909
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p...	OMIM:168600
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Pa...	OMIM:105210
Tay-Sachs Disease	Exaggerated startle response, Hypertonia	OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears	OMIM:617301
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Alstrom Syndrome	Progressive sensorineural hearing impairment, Decreased HDL cholesterol concentration, Hypertrigl...	OMIM:203800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ...	ORPHA:521426
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Xp21 Deletion Syndrome	Spasticity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Thrombocy...	ORPHA:31150
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural h...	OMIM:607426
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Progressive Supranuclear Palsy	Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dystonia	ORPHA:683
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Se...	OMIM:300972
Congenital Disorder Of Glycosylation, Type Ij	Tremor, Hypertonia, Hypoproteinemia, Hypsarrhythmia	OMIM:608093
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap...	OMIM:618527
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Tongue fasciculations	OMIM:608800
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb ataxia, Dysdi...	OMIM:617675
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Facial palsy, Elevated circulating C-reactive protein concentrati...	ORPHA:297
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Abnormality of extrapyramidal motor function, D...	ORPHA:79255
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Japanese Encephalitis	Hyponatremia, Decreased motor nerve conduction velocity, Neutrophilia, Weakness due to upper moto...	ORPHA:79139
H Syndrome	Hypertriglyceridemia, Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Histiocytosis	ORPHA:168569
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:617527
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hearing impairment, Opt...	OMIM:222300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, EEG with generalized sha...	ORPHA:369837
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred speech, Choreoathet...	OMIM:208900
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia	OMIM:618183
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, Increased circulating...	ORPHA:444490
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, M...	OMIM:616271
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Liver abscess	ORPHA:69663
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, EEG with spike-wave complexes, Tr...	ORPHA:2203
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope...	OMIM:214500
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole...	ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Clum...	ORPHA:90674
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni...	ORPHA:77293
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ...	OMIM:251100
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168605
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Clonus, Babinski sign, Dysmetria, Gait ataxia, Dys...	OMIM:606721
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Splenomegaly, Bilateral sensorineural hearing impairment,...	OMIM:619418
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Trunc...	OMIM:615356
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Facial palsy, Elevated circulating creatine kinase concentration, Clonus	OMIM:619424
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:253800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys...	OMIM:277400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Usher Syndrome, Type Ij	Abnormal vestibular function	OMIM:614869
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Neutral Lipid Storage Myopathy	Sensorineural hearing impairment, Hypertriglyceridemia, Fasciculations, Abnormal circulating crea...	ORPHA:98908
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Clonus, Protruding ear, Anemia, E...	ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Mend Syndrome	Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo...	ORPHA:401973
Cockayne Syndrome B	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Dec...	OMIM:133540
Cockayne Syndrome A	Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Splenomegaly, Dec...	OMIM:216400
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Papilledema	OMIM:619471
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Hypercalcemia, Tremor, Cranial nerve compression, Vocal cord paralysis, Condu...	ORPHA:276621
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth...	ORPHA:447753
Classical-Like Ehlers-Danlos Syndrome Type 2	Macrotia, Hypertriglyceridemia	ORPHA:536532
Wilson Disease	Limb dystonia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia,...	OMIM:277900
Mercury Poisoning	Tremor, Hypokalemia, Dystonia	ORPHA:330021
Woodhouse-Sakati Syndrome	Hyperlipidemia, Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of...	OMIM:241080
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Splenomegaly, Decreased serum zinc, Ataxia	OMIM:201100
Glycerol Kinase Deficiency	Low-set ears, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Tremor, Splenomegaly, ...	OMIM:615512
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Hemiparesis, Decreased proportion of naive CD8 T cells, Abnorma...	ORPHA:1830
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia	ORPHA:1414
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre...	ORPHA:512
19P13.12 Microdeletion Syndrome	External ear malformation, Hyperlipidemia, Sensorineural hearing impairment, Low-set ears, Conduc...	ORPHA:254346
Alagille Syndrome 1	Hypercholesterolemia, Macrotia, Hypertriglyceridemia, Low-set ears	OMIM:118450
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Hypertonia, Hypoplasia of the thymus, Low-set ear...	OMIM:264090
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Hypertonia, Spasticity, EEG with generalized slow activity	OMIM:618367
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R...	ORPHA:79102
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Niemann-Pick Disease Type C	Axial dystonia, Limb dystonia, Lower limb spasticity, Speech apraxia, Ataxia, Bone-marrow foam ce...	ORPHA:646
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Ataxia, Posteriorly rotated ears, Action tremor, Tremor, Optic atrophy, Hyp...	ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 2	Splenomegaly, Macrotia, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Macrotia, Hypertriglyceridemia	OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Steinert Myotonic Dystrophy	Poor fine motor coordination, Hypercholesterolemia, Facial diplegia, Fatigable weakness of bulbar...	ORPHA:273
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Neutropenia	OMIM:617248
Woodhouse-Sakati Syndrome	Hyperlipidemia, Protruding ear, Choreoathetosis, Bilateral sensorineural hearing impairment, Dyst...	ORPHA:3464
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia	OMIM:232220
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d...	OMIM:601104
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Involuntary movements, Decreased serum iron, Myo...	ORPHA:438213
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, Vacuolated lymp...	ORPHA:565612
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hearing impairment	ORPHA:90153
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio...	ORPHA:189427
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232200
Glycogen Storage Disease Ic	Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Fabry Disease	Hyperlipidemia, Sensorineural hearing impairment, Optic atrophy, Abnormal circulating lipid conce...	ORPHA:324
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe	OMIM:619522
Alström Syndrome	Optic disc pallor, Hypertriglyceridemia, Ataxia, Incoordination, Splenomegaly, Hyperlipidemia, He...	ORPHA:64
Aromatase Deficiency	Hyperlipidemia	ORPHA:91

Histopathology

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

There is no histopathology data for Cib2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cib2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.	Nature communications (June 2021)	Cib2^{tm1a(EUCOMM)Wtsi}	PMC8222345
CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.	Neuron (June 2021)	Cib2^{tm1a(EUCOMM)Wtsi}	PMC8374959
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Cib2^{tm1b(EUCOMM)Wtsi}	PMC5638796
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.	Nature communications (June 2017)	Cib2^{tm1a(EUCOMM)Wtsi} Cib2^{tm1b(EUCOMM)Wtsi}	PMC5491523
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.	Human molecular genetics (February 2017)	Cib2^{tm1a(EUCOMM)Wtsi}	PMC6075602
Usher protein functions in hair cells and photoreceptors.	The international journal of biochemistry & cell biology (November 2013)	Cib2^{tm1a(EUCOMM)Wtsi}	PMC3971483

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MGI Allele	Allele Type	Produced
Cib2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cib2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Cib2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Cib2^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Cib2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Cib2 MGI:1929293

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Echo

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Cib2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data