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

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	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

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

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X-ray

XRay Images Hind Leg and Hip

22 Images

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X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

7 Images

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Auditory Brain Stem Response

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

3 Images

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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 (562 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 Ij	Abnormal vestibular function	OMIM:614869
Usher Syndrome Type 1	Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib...	ORPHA:231169

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 auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Episodic Ataxia, Type 1	Spastic gait, Episodic ataxia, Incoordination, Elevated circulating creatine kinase concentration...	OMIM:160120
Optic Atrophy 2	Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign	OMIM:311050
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hypertriglyceridemi...	OMIM:615924
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Hearing impairment, Mildly elevated creatine kinase	OMIM:614369
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,...	OMIM:601068
Deafness, Autosomal Recessive 48	Abnormal vestibular function, Profound sensorineural hearing impairment	OMIM:609439
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hearing impairment, Hypercholester...	OMIM:144300
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Episodic Ataxia With Slurred Speech	Gait ataxia, Slurred speech, Tremor	ORPHA:401953
Epilepsy, Familial Adult Myoclonic, 4	EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen...	OMIM:615127
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia	OMIM:264070
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
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Spinocerebellar Ataxia Type 31	Gait ataxia, Spasticity, Tremor, Hearing impairment	ORPHA:217012
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor, Hearing i...	OMIM:165300
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor, Hearing impairment	OMIM:312910
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, EEG with photopa...	OMIM:613608
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem...	ORPHA:309169
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Hemiplegia, At...	OMIM:614561
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Spinocerebellar Ataxia 43	Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor	OMIM:617018
Primary Dystonia, Dyt27 Type	Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action...	ORPHA:464440
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia	OMIM:608898
Dystonia 27	Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:615048
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Ataxia, Babinski sign	OMIM:611105
Ataxia With Vitamin E Deficiency	Hypercholesterolemia, Abnormality of central somatosensory evoked potentials, Dysdiadochokinesis,...	OMIM:277460
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Abnormal pyramidal sign, Postural tremor, Oculomotor apraxia, Choreoathetosis, Ataxia, Elevated c...	ORPHA:64753
Fish-Eye Disease	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 6	Vocal tremor, Head tremor, Kinetic tremor, Postural tremor	OMIM:618866
Neuronopathy, Distal Hereditary Motor, Type Viia	Vocal cord paresis, Tremor, Vocal cord paralysis	OMIM:158580
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:320401
Spinocerebellar Ataxia 20	Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor	OMIM:608687
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Elevated circulatin...	OMIM:208920
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Splenomegaly	OMIM:619175
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero...	OMIM:607616
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Hemolytic anemia, EEG abnormality, Choreoathetosis, Ataxia, Reticulocy...	OMIM:612126
Neutral Lipid Storage Disease With Myopathy	Fasciculations, Hypertriglyceridemia, Sensorineural hearing impairment, Elevated circulating crea...	OMIM:610717
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto...	OMIM:314250
Primary Dystonia, Dyt13 Type	Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra...	ORPHA:98807
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	OMIM:615703
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Limb dystonia, Myoclonus, Abnormality of extrapyramidal moto...	OMIM:605407
Dystonia, Dopa-Responsive	Gait ataxia, Spasticity, Resting tremor, Postural tremor, Writer's cramp, Dysdiadochokinesis, Tor...	OMIM:128230
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Ataxia-Oculomotor Apraxia 4	Abnormal pyramidal sign, Tetraplegia, Oculomotor apraxia, Ataxia, Elevated circulating alpha-feto...	OMIM:616267
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, EEG with generalized epileptiform discharges, Ataxia	OMIM:616187
Tremor, Hereditary Essential, 1	Hand tremor, Action tremor, Postural tremor	OMIM:190300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment	OMIM:601455
Severe Neurodegenerative Syndrome With Lipodystrophy	Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor coordinati...	ORPHA:363400
Myoclonus, Familial, 1	Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus	OMIM:614937
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Ataxia, Hypercholesterolemia	OMIM:607250
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable...	OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements	OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia	ORPHA:401901
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia	OMIM:618425
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ...	OMIM:607317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, O...	ORPHA:521406
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytop...	OMIM:603552
Lower Motor Neuron Syndrome With Late-Adult Onset	Abnormal sensory nerve conduction velocity, Upper motor neuron dysfunction, Elevated circulating ...	ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Tremor, Interictal epileptiform activity	OMIM:615400
Spinocerebellar Ataxia Type 38	Gait ataxia, Tremor	ORPHA:423296
Cataract-Ataxia-Deafness Syndrome	Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, D...	ORPHA:1368
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In...	OMIM:616053
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 20	Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax...	ORPHA:101110
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Low-frequency sensorineural hearing impairment, Hepatosplenomegaly, Increased circulating...	OMIM:613101
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Papular Xanthoma	Histiocytosis, Hyperlipidemia	ORPHA:158008
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia	OMIM:245900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypoalbuminemia, Ataxia, Hypercholesterolemia	ORPHA:94124
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia	OMIM:300911
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre...	ORPHA:52368
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Hemiballismus, Frequent falls	ORPHA:494526
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia, Hearing impairment	ORPHA:79234
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Fatiguable weakness of proximal limb muscles, Elevated circulating creatine kinase concentration,...	ORPHA:90117
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hypertonia, Dystonia	OMIM:261630
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Clumsiness, Hypercholesterolemia	ORPHA:488650
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Tremor, EEG with spike-wav...	OMIM:614018
Hyperlipidemia, Familial Combined, 3	Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote...	OMIM:144250
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok...	OMIM:600501
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia...	ORPHA:216873
Spinocerebellar Ataxia 38	Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor	OMIM:615957
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Dystonia, Frequent falls	OMIM:619647
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My...	ORPHA:79262
Migraine, Familial Hemiplegic, 1	Hemiparesis, Ataxia, Tremor, Hemiplegia	OMIM:141500
Monomelic Amyotrophy	Tremor, Abnormality of peripheral nerve conduction, Fasciculations	ORPHA:65684
Spinocerebellar Ataxia Type 37	Sensorineural hearing impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel...	ORPHA:363710
Basal Ganglia Calcification, Idiopathic, 1	Abnormal circulating calcium concentration, Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, ...	OMIM:213600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy	OMIM:125250
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor	OMIM:612437
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom...	OMIM:619868
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Spast...	OMIM:618598
Developmental And Epileptic Encephalopathy 97	Hypsarrhythmia, Tremor	OMIM:619561
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy	OMIM:617519
Parkinsonism With Polyneuropathy	Resting tremor, Decreased motor nerve conduction velocity, Rigidity, Decreased amplitude of senso...	OMIM:619279
Tremor, Hereditary Essential, 4	Action tremor, Postural tremor	OMIM:614782
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:144600
Dystonia 11, Myoclonic	Writer's cramp, Torticollis, Tremor, Myoclonus	OMIM:159900
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Parkinson Disease 22, Autosomal Dominant	Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor	OMIM:616710
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradykinesia	OMIM:610297
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ...	OMIM:611302
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se...	OMIM:609260
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulating ...	OMIM:614307
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem...	OMIM:601596
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly	OMIM:612526
Leukodystrophy, Hypomyelinating, 13	Spasticity, Exaggerated startle response, Optic atrophy, Ataxia, Hypertonia, Clonus, Lower limb s...	OMIM:616881
Growth Hormone Insensitivity Syndrome	Hearing impairment, Hypercholesterolemia	ORPHA:181393
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Splenomegaly	OMIM:614480
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Abnormal nerve conduction velocity, Hearing impairment, Ataxia	ORPHA:101075
Cystathioninuria	External ear malformation, Tremor, Cystathioninemia	ORPHA:212
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi...	OMIM:618587
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized...	OMIM:607876
Neurodegeneration With Brain Iron Accumulation 7	Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Tremor, Lower ...	OMIM:617916
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Spinocerebellar Ataxia 50	Chorea, Froment sign, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, He...	OMIM:620158
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor	OMIM:615768
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy...	OMIM:300635
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia	OMIM:600116
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Decreased nerve conduction velocity, Hearing impairment, Ataxia	ORPHA:101078
Myopathy, spheroid body	Tremor, Elevated circulating creatine kinase concentration	OMIM:182920
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Spastic tetraplegia, Absent brainstem auditory responses, Hypochromic microcytic anemia, Increase...	ORPHA:3240
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra...	OMIM:615558
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Hepatosplenomegaly, Elevated circulating creat...	OMIM:616828
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor	OMIM:607458
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica...	ORPHA:314632
Late-Infantile/Juvenile Krabbe Disease	Spastic diplegia, EEG with persistent abnormal rhythmic activity, Clumsiness, Upper motor neuron ...	ORPHA:206443
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Mildly elevated creatine kinase, Hyperlipidemia, Tetraplegia, Fasciculations	OMIM:604484
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi...	ORPHA:158057
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic paraplegia,...	ORPHA:251282
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ...	OMIM:607688
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Postural tremor...	ORPHA:98762
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Increased VLDL cholesterol concentrat...	OMIM:267700
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni...	OMIM:617284
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Myoclonus, Tremor, Dystonia	OMIM:619651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,...	OMIM:612716
Spinocerebellar Ataxia 7	Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D...	OMIM:164500
Lichtenstein-Knorr Syndrome	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor	OMIM:616291
Developmental Delay And Seizures With Or Without Movement Abnormalities	EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia	OMIM:617836
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Action tremor, Hypercholesterolemia	ORPHA:77296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor	OMIM:618387
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia, Hearing impa...	ORPHA:139485
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, EEG with temporal focal spikes, Hypertonia	ORPHA:163985
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Progressive Supranuclear Palsy-Corticobasal Syndrome	Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor...	ORPHA:240103
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Cerebral Creatine Deficiency Syndrome 2	Rigidity, Paraparesis, Myoclonus, Decreased serum creatinine, Elevated circulating guanidinoaceti...	OMIM:612736
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus	OMIM:600363
Subacute Inflammatory Demyelinating Polyneuropathy	Motor conduction block, Abnormality of somatosensory evoked potentials, Decreased motor nerve con...	ORPHA:206594
Otosclerosis 7	Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia...	OMIM:617145
Neurodegeneration With Brain Iron Accumulation 3	Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi...	OMIM:606159
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Frequent falls, Tongue fas...	OMIM:159950
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor	OMIM:615362
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ...	OMIM:619802
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne...	ORPHA:99027
Spinocerebellar Ataxia Type 14	Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia	ORPHA:98763
Urocanic Aciduria	Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration	ORPHA:210128
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology	OMIM:300983
Corticobasal Syndrome	Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv...	ORPHA:454887
Saccharopinuria	Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo...	ORPHA:3124
Proximal Myopathy With Extrapyramidal Signs	Chorea, Resting tremor, Optic atrophy, Ataxia, Mildly elevated creatine kinase, Progressive extra...	ORPHA:401768
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Ataxia, Tremor, EEG abnormality	OMIM:617831
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, EEG with spike-wave complexes (2.5-3.5 Hz), Ataxia	OMIM:616366
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment...	ORPHA:1215
X-Linked Charcot-Marie-Tooth Disease Type 5	Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Ataxia, Tremor, Hearing impairment	ORPHA:99014
Parkinsonism-Dystonia 1, Infantile-Onset	Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor...	OMIM:613135
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, EEG with generalized slow activity grade 4, Spasticity, Myo...	ORPHA:79263
Primary Dystonia, Dyt2 Type	Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener...	ORPHA:99657
Peroxisome Biogenesis Disorder 5B	Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Oculomotor ap...	OMIM:614867
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Tremor, Hyperlipi...	ORPHA:247585
Galactokinase Deficiency	Hypergalactosemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hep...	ORPHA:79237
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Hypermanganesemia With Dystonia 1	Poor fine motor coordination, Hypermanganesemia, Increased total iron binding capacity, Parkinson...	OMIM:613280
Dystonia 12	Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia	OMIM:128235
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic para...	ORPHA:329284
Spinocerebellar Ataxia 23	Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor	OMIM:610245
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Smith-Magenis Syndrome	EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid...	OMIM:182290
Parkinsonism-Dystonia 2, Infantile-Onset	Dysdiadochokinesis, Parkinsonism, Abnormal autonomic nervous system physiology, Oculogyric crisis...	OMIM:618049
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Sensorineural hearing impairment, Eyelid myoclonus, Clumsiness, Myoclonus, Hepato...	ORPHA:2590
Hsd10 Disease	Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor, Hearing...	ORPHA:391417
Acrocraniofacial Dysostosis	Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,...	OMIM:201050
Neuroectodermal Melanolysosomal Disease	Spasticity, Optic atrophy, Rigidity, Ataxia, Tremor, Hypertonia	ORPHA:33445
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia	OMIM:618093
Cog4-Cdg	Limb hypertonia, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Hyperphenylalaninemia, Bh4-Deficient, A	Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Ataxia, Tremor, ...	OMIM:261640
Developmental And Epileptic Encephalopathy 68	Spasticity, Exaggerated startle response, Myoclonus, Clonus	OMIM:618201
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Poor fine motor coordination, Hypercholesterolemia	ORPHA:254531
Neurodegeneration With Brain Iron Accumulation 8	Dysmetria, Tremor, Ataxia	OMIM:617917
Glycosylphosphatidylinositol Biosynthesis Defect 15	Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Apraxia, Dysmetria, Tremor	OMIM:617810
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Macrotia	OMIM:616269
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements...	OMIM:233910
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Dystonia, Splenomegaly	OMIM:615010
Apolipoprotein C-Ii Deficiency	Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat...	OMIM:207750
Spinocerebellar Ataxia, Autosomal Recessive 30	Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa...	OMIM:619405
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Temple Syndrome	Hypertriglyceridemia, Posteriorly rotated ears, Hypercholesterolemia	OMIM:616222
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity	OMIM:619028
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Tetraplegia, Hemiplegia, Ataxia, Hepatosplenomegal...	OMIM:603553
Developmental And Epileptic Encephalopathy 42	EEG abnormality, Ataxia, Tremor, Hypertonia, Athetosis	OMIM:617106
Glycerol Kinase Deficiency	Low-set ears, Hypertriglyceridemia	OMIM:307030
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly...	OMIM:618398
Lysosomal Acid Lipase Deficiency	Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con...	OMIM:278000
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Gait ataxia, Gait apraxia, Resting tremor, Dysdiadochokinesis, Apraxia, Paraparesis, Limb ataxia,...	OMIM:615157
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Parkinson Disease 17	Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia	OMIM:614203
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Ankle clonus, Optic atrophy, Babinski sign, Spastic paraplegia, Opt...	OMIM:609541
Tangier Disease	Facial diplegia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-...	OMIM:205400
Multiple System Atrophy	Orthostatic hypotension due to autonomic dysfunction, Gait ataxia, Abnormal pyramidal sign, Postu...	ORPHA:102
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Elevated circulating cre...	OMIM:619473
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Elevated circulating creatine kinase concentration	OMIM:313200
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul...	OMIM:210250
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Rigidity, Ataxia, Decreased sensory nerve conduction v...	OMIM:603472
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra...	ORPHA:158061
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Tremor	OMIM:607734
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu...	ORPHA:397946
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Spinocerebellar Ataxia, Autosomal Recessive 2	Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor	OMIM:213200
Nephrotic Syndrome, Type 14	Sensorineural hearing impairment, Lymphopenia, Ataxia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Myopathy With Extrapyramidal Signs	Chorea, Hyperlysinemia, Optic atrophy, Clumsiness, Abnormality of extrapyramidal motor function, ...	OMIM:615673
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote...	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked pote...	ORPHA:529799
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at...	OMIM:619260
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Hemiparesis, Tremor, Dystonia, Bradykinesia	ORPHA:306669
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Chédiak-Higashi Syndrome	Spastic paraplegia, Hepatosplenomegaly, Hyponatremia, Thrombocytopenia, Abnormal leukocyte morpho...	ORPHA:167
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Clumsiness, Elevated ci...	OMIM:617013
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Limb dystonia, Torticollis, Upper limb postural tremor, Hand tremor, Myoclonus, Or...	ORPHA:420485
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Chorea, Exaggerated startle response, Macrotia, Spasticity, Spastic tetraplegia, Optic nerve hypo...	OMIM:617864
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Paraparesis, Hand tr...	OMIM:302800
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole...	ORPHA:650
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count	OMIM:618394
Hyperlipoproteinemia, Type I	Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating...	OMIM:238600
Leukodystrophy, Hypomyelinating, 6	Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612438
Spinocerebellar Ataxia, Autosomal Recessive 21	Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls, Splenomegaly	OMIM:616719
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystonia, Brad...	ORPHA:240085
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to...	OMIM:606324
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Dystonia 24	Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia	OMIM:615034
Parkinson Disease 14, Autosomal Recessive	Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Upper limb postural tre...	OMIM:612953
Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma	OMIM:144010
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macrotia, Resting tremor, Spastic tetraplegia, Spastic gait, Parkinsonism, Apraxia, Choreoathetos...	OMIM:300055
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating...	ORPHA:247598
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Gait ataxia, Myoclonus, Ataxia, Large fleshy ears, Tremor, Hypertonia, Low-set ears, Overfolded h...	OMIM:619092
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr...	OMIM:618620
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Poor fine motor coordination, Exaggerated startle response, ...	ORPHA:845
Adult Krabbe Disease	Hoffmann sign, Progressive spastic paraparesis, Spasticity, EEG abnormality, Clumsiness, Upper mo...	ORPHA:206448
Autosomal Dominant Cerebellar Ataxia	Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor, Spasticit...	ORPHA:99
Mohr-Tranebjaerg Syndrome	Spasticity, Postlingual sensorineural hearing impairment, Progressive sensorineural hearing impai...	OMIM:304700
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Chorea, Abnormal pyramidal sign, Vestibular nystagmus, EEG with persistent abnormal ...	ORPHA:282166
Cln5 Disease	Spasticity, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Multifocal epileptiform di...	ORPHA:228360
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Progressive spastic paraplegia, Exaggerated startle response, Optic atrophy, Abnormality of extra...	ORPHA:320406
Leukodystrophy, Hypomyelinating, 11	Ataxia, Spasticity, Tremor, Myoclonus	OMIM:616494
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Sensorineural hearing impairment, Neutropenia, Increased circulating ferritin concentrati...	ORPHA:540
X-Linked Dystonia-Parkinsonism	Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp...	ORPHA:53351
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Dopa-Responsive Dystonia	Parkinsonism, Fatigable weakness, Poor coordination, Oculogyric crisis, Rigidity, Abnormality of ...	ORPHA:255
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh...	ORPHA:363654
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Low-set ears, Tremor, Spastic paraplegia	ORPHA:477673
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Tremor, Decreased serum creatinine, Hypocystinemia	OMIM:617744
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ata...	ORPHA:158048
Gm2 Gangliosidosis, Ab Variant	Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ...	ORPHA:309246
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa...	OMIM:608643
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia	OMIM:619738
Lopes-Maciel-Rodan Syndrome	Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Dystonia, Bradykinesia	OMIM:617435
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mildly elevated creatine kinase, Tremor, Decreased nerve conduction velocity, Vocal cord paralysi...	ORPHA:397744
Gm2-Gangliosidosis, Ab Variant	Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H...	OMIM:272750
Atypical Rett Syndrome	Gait ataxia, Spasticity, Limb myoclonus, EEG abnormality, Apraxia, Tremor, Hand apraxia, Involunt...	ORPHA:3095
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia	ORPHA:70594
Aceruloplasminemia	Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Parkinsonism, Rigidity, Involuntary movem...	ORPHA:48818
Hyperekplexia 2	Exaggerated startle response, Myoclonus, Hypertonia	OMIM:614619
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Spasticity, Tremor, EEG abnormality	OMIM:618718
4H Leukodystrophy	Optic atrophy, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor f...	ORPHA:289494
Hyperekplexia 3	Exaggerated startle response, Myoclonus, Hypertonia	OMIM:614618
Asparagine Synthetase Deficiency	Exaggerated startle response, Macrotia, Spastic tetraplegia, Limb hypertonia, EEG with burst supp...	OMIM:615574
Riboflavin Transporter Deficiency	Progressive hearing impairment, Abnormal autonomic nervous system physiology, Myoclonus, Ataxia, ...	ORPHA:97229
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, EEG abnormality, Ataxia, Hypercholesterolemia, Protruding ear	ORPHA:2479
Parkinson-Dementia Syndrome	Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism	OMIM:260540
Glutathionuria	Tremor, Action tremor, Dysdiadochokinesis	OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor	OMIM:614831
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Blepharospasm, Torsion dystonia, Tremor	OMIM:224500
Charcot-Marie-Tooth Disease Type 1F	Gait ataxia, Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, ...	ORPHA:101085
Chylomicron Retention Disease	Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Steatorrhea	ORPHA:71
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo...	OMIM:618877
Behr Syndrome	Optic atrophy, Progressive spasticity, Truncal ataxia, Ataxia, Babinski sign, Dysmetria, Tremor, ...	OMIM:210000
Neutral Lipid Storage Disease With Ichthyosis	Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme...	ORPHA:98907
Smith-Magenis Syndrome	Hypertriglyceridemia, Conductive hearing impairment, EEG abnormality, Hypercholesterolemia	ORPHA:819
Kufor-Rakeb Syndrome	Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons...	OMIM:606693
Developmental And Epileptic Encephalopathy 46	Hypsarrhythmia, Tremor, Limb hypertonia	OMIM:617162
Megalocornea-Mental Retardation Syndrome	Poor coordination, Ataxia, Large fleshy ears, Hypercholesterolemia, Cupped ear	OMIM:249310
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Poor fine motor coordination, Spastic ataxia, Optic atrophy, Progressive spasticity, Truncal atax...	ORPHA:137898
Spinocerebellar Ataxia 42	Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor	OMIM:616795
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Optic atrophy, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia	OMIM:607694
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline	OMIM:603471
Obesity Due To Congenital Leptin Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia, Decreased proportion ...	ORPHA:66628
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Tremor, Sensorineural hearing impairment, Hypertonia	ORPHA:1192
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Hyperbilirubinemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration...	ORPHA:713
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Hypertonia	OMIM:300607
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Myoclonic spasms, Rigidity, Frequent falls, Opisthotonus	OMIM:184850
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Oromandibula...	OMIM:128100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Poor fine motor coordination, Hypercholesterolemia	ORPHA:96184
Hyperekplexia 1	Exaggerated startle response, Frequent falls, Myoclonus, Hypertonia	OMIM:149400
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Optic atrophy, Limb hypertonia, Rigidity, Hypsarrhythmia, Myoclonus, Ataxia, EEG with...	ORPHA:442835
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gait ataxia, Spasticity, Optic atrophy, EEG abnormality, Oculomotor apraxia, Dysmetria, Tremor	ORPHA:529665
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, Exaggerated startle response	OMIM:618367
Obesity Due To Leptin Receptor Gene Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hypertriglyceridemia, Decreased proportion ...	ORPHA:179494
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration	OMIM:604367
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Sensorineural hearing impairment	OMIM:615381
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:209902
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor...	OMIM:618056
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor	ORPHA:1170
Congenital Generalized Lipodystrophy	Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:528
Generalized Epilepsy With Febrile Seizures-Plus	Poor fine motor coordination, Incoordination, Ataxia, Tremor, EEG with spike-wave complexes, Brad...	ORPHA:36387
Lipodystrophy, Familial Partial, Type 5	Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Developmental And Epileptic Encephalopathy 4	Spastic tetraplegia, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Spastic paraple...	OMIM:612164
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Focal EEG discharges with secondary ...	ORPHA:3077
Griscelli Syndrome Type 1	Ataxia, Hyperlipidemia, Hypertonia	ORPHA:79476
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Tremor by anatomical site, Abnormal pyramidal sign, Parkinsonism, Rigidity, Oculom...	ORPHA:99750
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:615812
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Spasticity, Ankle clonus, Optic atrophy, Spastic ...	ORPHA:206436
Hyperlipoproteinemia, Type Id	Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr...	OMIM:615947
Microtriplication 11Q24.1	Hyperlipidemia, Attached earlobe, Hyperkinetic movements, Hearing impairment, Posteriorly rotated...	ORPHA:289522
Tetanus	Rigidity, Abnormal autonomic nervous system physiology, Elevated circulating creatine kinase conc...	ORPHA:3299
Dentatorubral Pallidoluysian Atrophy	Gait ataxia, Blepharospasm, Dysdiadochokinesis, Involuntary movements, Truncal ataxia, Myoclonus,...	ORPHA:101
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Brain Dopamine-Serotonin Vesicular Transport Disease	Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Ataxia, Spastic tetraparesis,...	ORPHA:352649
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Dysmetria, Tremor, H...	ORPHA:96
Pelizaeus-Merzbacher Disease	Abnormal pyramidal sign, Optic atrophy, Writer's cramp, Choreoathetosis, Ataxia, Intention tremor...	OMIM:312080
Cockayne Syndrome Type 1	Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud...	ORPHA:90321
Spinocerebellar Ataxia Type 21	Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell...	ORPHA:98773
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Dysbetalipoproteinemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	ORPHA:412
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Mildly elevated creatine kinase, Facial diplegia, Tremor, Decreased nerve conductio...	ORPHA:329478
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Vocal cord paralysis, Elevated cir...	ORPHA:98863
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Hearing impairment	OMIM:620114
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
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Gait ataxia, Chorea, Abnormal pyramidal sign, Decreased motor nerve conduction velocity, Oculomot...	OMIM:606002
Combined Oxidative Phosphorylation Deficiency 18	Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia	OMIM:615578
Spinocerebellar Ataxia 8	Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia	OMIM:608768
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Sneddon Syndrome	Tremor, Lymphopenia, Hemiplegia, Facial palsy	OMIM:182410
Sandhoff Disease, Infantile Form	Spasticity, Exaggerated startle response, Myoclonus, Hepatosplenomegaly	ORPHA:309155
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Gait ataxia, Spasticity, Resting tremor, Dysdiadochokinesis, Parkinsonism, Abnormal autonomic ner...	ORPHA:247234
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Optic atrophy, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Hypertonia, Inte...	OMIM:616505
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Splenomegaly	OMIM:613027
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Spastic diplegia, Neutropenia in presence of anti-neutropil antibodies, Pure red ce...	OMIM:613179
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Hypertonia, Throm...	OMIM:617710
Griscelli Syndrome Type 2	Pancytopenia, Hemophagocytosis, Hyperlipidemia, Hypertonia, Neutropenia, Splenomegaly	ORPHA:79477
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Spastic paraparesis, Tremor...	OMIM:300894
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Abnormality of extrapyramidal m...	OMIM:614298
Spinocerebellar Ataxia Type 27	Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Tremor	ORPHA:98764
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hypercholesterolemia	ORPHA:90065
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Hy...	ORPHA:1578
Sandhoff Disease	Exaggerated startle response, Spasticity, Upper motor neuron dysfunction, Ataxia, Hepatosplenomeg...	OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Spasticity, Hemiparesis, Abnormal autonomic...	OMIM:105210
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Classic Phenylketonuria	Hyperphenylalaninemia, Hemiplegia, Paraplegia, Tremor, Hypertonia	ORPHA:79254
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Parkinson Disease 21	Rigidity, Tremor, Bradykinesia, Parkinsonism	OMIM:616361
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism	ORPHA:178509
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri...	ORPHA:79240
Sialidosis Type 1	Sensorineural hearing impairment, EEG abnormality, Myoclonus, Ataxia, Slurred speech, Tremor, Dec...	ORPHA:812
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Gait ataxia, Spasticity, Abnormal pyramidal sign, Optic atrophy, Dysdiadochokinesis, Ataxia, Dysm...	OMIM:614381
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole...	ORPHA:370
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Splenomegaly	ORPHA:2348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy...	ORPHA:264580
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia, Splenomegaly	ORPHA:79083
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response	ORPHA:3198
Adult-Onset Dystonia-Parkinsonism	Abnormal circulating creatine kinase concentration, Spasticity, Rigidity, Eyelid apraxia, Clumsin...	ORPHA:199351
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Sensorineural hearing impairment, Spastic tetraplegia, Abnormal autonomic nervous sys...	OMIM:609136
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Hypokalemia, Tremor	OMIM:613239
Non-Functioning Paraganglioma	Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Tremor, Hypercalcem...	ORPHA:94080
Tay-Sachs Disease	Exaggerated startle response, Hypertonia	OMIM:272800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor	OMIM:618060
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Hypertonia, Clonus, Low-set ears	OMIM:617301
Cerebrotendinous Xanthomatosis	Spasticity, Abnormal pyramidal sign, Abnormality of somatosensory evoked potentials, Optic atroph...	ORPHA:909
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Gerstmann-Straussler Disease	Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,...	OMIM:137440
Alstrom Syndrome	Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration, Progressive sensori...	OMIM:203800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Tremor, Dys...	OMIM:168600
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly	OMIM:617591
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Sensorineural hearing impairment, Myoclonus, Ataxia, Right hemiplegia, Elevated circulati...	OMIM:607426
Tangier Disease	Anemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Thrombocytopenia, Hypertriglyce...	ORPHA:31150
Xp21 Deletion Syndrome	Spasticity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun...	ORPHA:90041
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Limb hypertonia, R...	ORPHA:521426
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Parkinsonism with favorable response to dop...	ORPHA:240071
Tick-Borne Encephalitis	Leukopenia, Abnormal glossopharyngeal nerve morphology, Fatigable weakness of respiratory muscles...	ORPHA:297
Immunodeficiency 47	Leukopenia, Sensorineural hearing impairment, Normocytic anemia, Decreased circulating copper con...	OMIM:300972
Lysinuric Protein Intolerance	Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Hepatosplen...	ORPHA:470
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Bradykinesia, Resting tremor, Parkinsonism	OMIM:614251
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spasticity, Sensorineural hearing impairment, Ataxia, Babinski sign, Spastic paraplegia, Dysmetri...	OMIM:618527
Progressive Supranuclear Palsy	Blepharospasm, Rigidity, Abnormal synaptic transmission, Tremor, Dystonia, Bradykinesia	ORPHA:683
Congenital Disorder Of Glycosylation, Type Ij	Hypsarrhythmia, Tremor, Hypoproteinemia, Hypertonia	OMIM:608093
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Exaggerated startle response	OMIM:608800
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Thrombocyt...	OMIM:251100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Exaggerated startle response, Dystonia, Ataxia	ORPHA:438216
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Macrotia, Spasticity, Abnormality of extrapyramidal motor function,...	ORPHA:79255
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth...	ORPHA:275761
H Syndrome	Hypertriglyceridemia, Hepatosplenomegaly, Histiocytosis, Hearing impairment, Microcytic anemia	ORPHA:168569
Wolfram Syndrome 1	Sensorineural hearing impairment, Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Atax...	OMIM:222300
Myopathy, Mitochondrial, And Ataxia	Dysdiadochokinesis, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase con...	OMIM:617675
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Japanese Encephalitis	EEG abnormality, Respiratory paralysis, Decreased motor nerve conduction velocity, EEG with burst...	ORPHA:79139
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Abnormal pyramidal sign, Optic atrophy, Rigidity, Abnormality of ex...	OMIM:617527
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia	ORPHA:364
Migraine, Familial Hemiplegic, 2	Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor	OMIM:602481
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Spastic Paraplegia 9B, Autosomal Recessive	Spasticity, Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Tetraplegia	OMIM:616586
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Hearing impairment, Hy...	ORPHA:369837
Mogs-Cdg	Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen...	ORPHA:79330
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Tremor, Schist...	OMIM:274150
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Dysdiadochokinesis, Leukemia, Myoclonus, Choreoathet...	OMIM:208900
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Spasticity, Myoclonus, Choreoathetosis, Ataxia, Tremor, Thrombocytopenia, Hyperkineti...	OMIM:616271
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Hypercholesterolemia	ORPHA:69663
Familial Chylomicronemia Syndrome	Perianal abscess, Hepatosplenomegaly, Hyperlipidemia, Increased circulating chylomicron concentra...	ORPHA:444490
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Chediak-Higashi Syndrome	Leukopenia, Anemia, Ataxia, Giant neutrophil granules, Tremor, Decreased nerve conduction velocit...	OMIM:214500
Hyperlysinemia	Hyperlysinemia, Hypoornithinemia, Hypoplastic helices, Spastic diplegia, Clumsiness, Poor motor c...	ORPHA:2203
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morphology, Xanthelasma, H...	ORPHA:79259
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration	OMIM:613327
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Bradykinesia	ORPHA:240094
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Apraxia, Hypersplenism, Acute promyelocytic leukemia, A...	ORPHA:77293
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Clumsiness, Neonatal hyperbilirubinemia, Hypercholester...	ORPHA:90674
Lipodystrophy, Familial Partial, Type 7	Gait ataxia, Dysdiadochokinesis, Babinski sign, Clonus, Dysmetria, Tinnitus, Hypercholesterolemia...	OMIM:606721
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Polysplenia, Accessory spleen, Profound hearing impairment, Bilateral sensorineural heari...	OMIM:619418
Trisomy 10P	Macrotia, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked potentials, Abnor...	ORPHA:171929
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Chorea, EEG abnormality, Truncal ataxia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly	ORPHA:280365
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Elevated circulating creatine kinase concentration, Clonus, Tremor, Facial palsy	OMIM:619424
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Hypercholesterolemia	OMIM:248370
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia	ORPHA:369
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Macrotia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Abnormality of extrapyr...	OMIM:277400
Usher Syndrome, Type Ij	Abnormal vestibular function	OMIM:614869
Usher Syndrome Type 1	Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib...	ORPHA:231169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemiparesis, Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, S...	OMIM:235400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Rigidity, Spasticity, Tremor, Hypertonia	OMIM:176500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:253800
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Seckel Syndrome 10	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Parkinson Disease 20, Early-Onset	Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Involuntary movements, Dystonia, Bradykinesia	OMIM:615530
Immunodeficiency 87 And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Decreased proportion of CD4-positive T ce...	OMIM:619573
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Sensorineural hearing i...	ORPHA:98908
Mend Syndrome	Limb hypertonia, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehyd...	ORPHA:401973
Cockayne Syndrome B	Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Dec...	OMIM:133540
Cockayne Syndrome A	Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Dec...	OMIM:216400
Multiple System Atrophy 1, Susceptibility To	Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Ataxia, Babinski sign, Trem...	OMIM:146500
Neuroleptic Malignant Syndrome	Chorea, Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Oculogyri...	ORPHA:94093
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia	OMIM:619471
Oculocerebrorenal Syndrome Of Lowe	Hypercholesterolemia, Hyperaldosteronism, Anemia, EEG abnormality, Hypophosphatemia, Hypokalemia,...	ORPHA:534
Autosomal Dominant Spastic Paraplegia Type 9A	Abnormal pyramidal sign, Sensorineural hearing impairment, Spastic gait, Spastic dysarthria, Babi...	ORPHA:447753
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Macrotia	ORPHA:536532
Wilson Disease	Anemia, Hemolytic anemia, Rigidity, Limb dystonia, Decreased circulating ceruloplasmin concentrat...	OMIM:277900
Mercury Poisoning	Hypokalemia, Tremor, Dystonia	ORPHA:330021
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Decreased serum zinc	OMIM:201100
Woodhouse-Sakati Syndrome	Sensorineural hearing impairment, Abnormality of extrapyramidal motor function, Choreoathetosis, ...	OMIM:241080
Triosephosphate Isomerase Deficiency	Spasticity, Hemolytic anemia, Normocytic anemia, Chronic hemolytic anemia, Tremor, Macrocytic ane...	OMIM:615512
Schimke Immuno-Osseous Dysplasia	Anemia, Hemiparesis, Hemiplegia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T...	ORPHA:1830
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Spasticity, Blepharospasm, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, ...	OMIM:234200
Cholestasis-Lymphedema Syndrome	Splenomegaly, Hyperlipidemia	ORPHA:1414
Metachromatic Leukodystrophy	Progressive spasticity, Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Freq...	ORPHA:512
Alagille Syndrome 1	Low-set ears, Hypertriglyceridemia, Macrotia, Hypercholesterolemia	OMIM:118450
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Wiedemann-Rautenstrauch Syndrome	Small earlobe, Hypoplasia of the thymus, Truncal ataxia, Hypertonia, Low-set ears, Hypertriglycer...	OMIM:264090
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Abnormality of peripheral nerve conduction, Respiratory paralysis, Transien...	ORPHA:79102
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Wiedemann-Rautenstrauch Syndrome	Spasticity, Optic atrophy, Limb hypertonia, Truncal ataxia, Ataxia, Tremor, Action tremor, Hypert...	ORPHA:3455
Niemann-Pick Disease Type C	Chorea, Splenomegaly, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Cataplexy,...	ORPHA:646
Lipodystrophy, Congenital Generalized, Type 2	Splenomegaly, Hypertriglyceridemia, Macrotia, Elevated hemoglobin A1c	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Macrotia, Splenomegaly	OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1	Macrotia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concen...	OMIM:256040
Steinert Myotonic Dystrophy	Facial diplegia, Fatigable weakness of bulbar muscles, Poor fine motor coordination, Hypercholest...	ORPHA:273
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
3-Methylglutaconic Aciduria, Type Viii	Sensorineural hearing impairment, Tremor, Hypertonia, Clonus, Neutropenia, Dystonia	OMIM:617248
Lowe Oculocerebrorenal Syndrome	Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci...	OMIM:309000
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hypercholesterolemia	ORPHA:391665
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia, Bilateral sensorineural hearing impairment, Dystonia, Protruding...	ORPHA:3464
Combined Deficiency Of Factor V And Factor Viii	Hyperuricemia, Hyperlipidemia	ORPHA:35909
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Splenomegaly, Elevated circulating creatinine concentration, Hyperbilirubinemia, Prot...	OMIM:619534
Primary Lipodystrophy	Splenomegaly, Hyperlipidemia	ORPHA:90970
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu...	ORPHA:157
Supranuclear Palsy, Progressive, 1	Retrocollis, Parkinsonism, Rigidity, Limb dystonia, Eyelid apraxia, Tremor, Axial dystonia, Brady...	OMIM:601104
Glycogen Storage Disease Ib	Hyperuricemia, Hyperlipidemia, Xanthelasma, Neutropenia, Splenomegaly	OMIM:232220
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Anemia, Myoclonus, Decreased serum iron, Involuntary movements, Opt...	ORPHA:438213
Primary Triglyceride Deposit Cardiomyovasculopathy	Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Hyperlipide...	ORPHA:565612
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s...	ORPHA:189427
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu...	ORPHA:228308
Atypical Werner Syndrome	Hypertriglyceridemia	ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hearing impairment, Hyperlipidemia	ORPHA:90153
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili...	ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Glycogen Storage Disease Ia	Hyperuricemia, Hyperlipidemia, Xanthelasma	OMIM:232200
Fabry Disease	Abnormal circulating lipid concentration, Anemia, Sensorineural hearing impairment, Optic atrophy...	ORPHA:324
Glycogen Storage Disease Ic	Hyperuricemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma	OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Exaggerated startle response, Microtia, Low-set ears, Posteriorly rotated ears	OMIM:619522
Alström Syndrome	Poor fine motor coordination, Optic disc pallor, Thickened ears, Progressive sensorineural hearin...	ORPHA:64

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 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
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

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Gene: Cib2 MGI:1929293

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

X-ray

Embryo LacZ

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Cib2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data