Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating triglyceride level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 1.17×10-07
decreased prepulse inhibition Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.00×10-21
increased basophil cell number Cib2tm1b(EUCOMM)Wtsi HOM Early adult 8.59×10-05
increased circulating HDL cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 9.99×10-06
abnormal auditory brainstem response Cib2tm1b(EUCOMM)Wtsi HOM   Early adult 2.80×10-05
decreased startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 4.43×10-06
abnormal ear morphology Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.72×10-10
limb grasping Cib2tm1b(EUCOMM)Wtsi HOM Early adult 8.83×10-07
increased circulating fructosamine level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.85×10-06
increased circulating cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-06
abnormal startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.57×10-21
tremors Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.60×10-05

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Echo

M-Mode Images

79 Images

X-ray

XRay Images Hind Leg and Hip

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

3 Images

Human diseases caused by Cib2 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Optic Atrophy 2
Dysdiadochokinesis, Babinski sign, Optic atrophy, Tremor OMIM:311050
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hypertriglyceridemia, Myoclo... OMIM:615924
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Deafness, Autosomal Recessive 48
Vestibular dysfunction, Profound sensorineural hearing impairment OMIM:609439
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholester... OMIM:144300
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... OMIM:601068
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor OMIM:264070
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Hearing impairment, Tremor ORPHA:217012
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Abnormality of extrapyramidal motor function, Optic atrophy, Hearing impairmen... OMIM:165300
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glutathionuria
Tremor OMIM:231950
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Spastic Paraparesis And Deafness
Spastic paraparesis, Hearing impairment, Tremor OMIM:312910
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Jerk-locked premyoclonus spikes, Myoclonus, Tremor OMIM:615127
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Enhancement of the C-reflex, ... OMIM:613608
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Hypercholesterolemia, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal... OMIM:208920
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL cholesterol con... OMIM:607616
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Hypercholesterole... ORPHA:64753
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Fasciculati... OMIM:610717
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Transient hyperphenylalaninemia, Bradykinesia, Cogwheel... OMIM:128230
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus, Tremor OMIM:608105
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Hypsarrhythmia, Tremor OMIM:619561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Ataxia, Limb dystonia, Gait ataxia, Poor motor coordinatio... ORPHA:363400
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Sensorineural hearing impairment, Tremor, Poor coordination, Spasticity, Clumsiness, B... OMIM:270500
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Myoclonus, Hypertonia OMIM:261630
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Bradykinesia, Tremor, Hypermanganesemia, Scissor gait, Spas... ORPHA:521406
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Tremor, Ataxia, D... ORPHA:1368
Glut1 Deficiency Syndrome 2
EEG abnormality, Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Low-frequency sensorineural hea... OMIM:613101
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Elevated circulating creatine kinase concentration... OMIM:612953
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Limb fasciculations, Abnormal peripheral action potenti... ORPHA:90117
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment, Tremor ORPHA:79234
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Lower Motor Neuron Syndrome With Late-Adult Onset
Abnormal sensory nerve conduction velocity, Fasciculations, Elevated circulating creatine kinase ... ORPHA:276435
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Distal Myopathy, Tateyama Type
Clumsiness, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Ataxia, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Ankle clonus, Abnormal pyramidal sign, Dystonia, ... ORPHA:52368
Monomelic Amyotrophy
Fasciculations, Abnormality of peripheral nerve conduction, Tremor ORPHA:65684
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ... ORPHA:363710
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Parkinsonism With Polyneuropathy
Resting tremor, Decreased amplitude of sensory action potentials, Bradykinesia, Decreased motor n... OMIM:619279
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Ataxia, Myoclonus, Tremor OMIM:614018
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Ataxia, Hearing impairment, Tremor ORPHA:101075
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Resting tremor, Bradykinesia, Tremor OMIM:616710
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocit... OMIM:609260
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Cystathioninuria
External ear malformation, Cystathioninemia, Tremor ORPHA:212
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperlipidemia, Fasciculations, Mildly elevated creatine kinase, Tetraplegia OMIM:604484
Temple Syndrome
Posteriorly rotated ears, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hype... OMIM:261640
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Spastic tetraplegia, Head tit... ORPHA:3240
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Blephar... OMIM:607876
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
Growth Hormone Insensitivity Syndrome
Hearing impairment, Hypercholesterolemia ORPHA:181393
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Hemolytic anemia, Tremor OMIM:615010
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Low-set ears, Tremor OMIM:618951
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Ankle clonus OMIM:615768
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Ataxia, Hearing impairment, Tremor ORPHA:101078
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Tremor OMIM:618387
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Optic atrophy, Tremor OMIM:210000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Gait ataxia, EEG with polyspike wave complexes, Chorea, Truncal at... OMIM:618587
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased circulating ceruloplasmin conce... OMIM:616828
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Rigidity, Babinski sign, Postural tremor, Parkinsonism with favorable res... ORPHA:314632
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxi... OMIM:612716
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Optic atrophy, Hearing impairment, Tremor OMIM:612438
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, EEG with persistent abnormal rhythmic activity, Spastic diplegia, Spastic parapar... ORPHA:206443
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Abnormal autonomic nervous system phys... OMIM:300894
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Abnormality of the autonomic nervous system, Leuk... ORPHA:206594
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypertonia, Hypoproteinemia, Hyponatremia, Leukopen... OMIM:267700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Hyperuricemia ORPHA:77296
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Hearing impairment, ... ORPHA:139485
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Gabriele-De Vries Syndrome
Dystonia, Posteriorly rotated ears, Tremor OMIM:617557
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Optic atrophy, Tremor OMIM:614947
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Ataxia, Paraparesis, Optic atrophy, Hearing impairment, Tremor ORPHA:99014
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Caribbean Parkinsonism
Orthostatic hypotension, Action tremor, Dystonia, Parkinsonism, Autonomic bladder dysfunction, Ap... ORPHA:97355
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Decreased circulating ferritin concentration, Blepharosp... OMIM:606159
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Spinocerebellar Ataxia 12
Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Peroxisome Biogenesis Disorder 5B
Dysmetria, Sensorineural hearing impairment, Ataxia, Oculomotor apraxia, Elevated levels of phyta... OMIM:614867
Adult-Onset Autosomal Dominant Leukodystrophy
Action tremor, Orthostatic hypotension, Clonus, Tremor, Dysmetria, Abnormal autonomic nervous sys... ORPHA:99027
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Abnormal circulating histidine concentration, Truncal ataxia ORPHA:210128
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Spastic diplegia, Elevated plasma citrul... ORPHA:3124
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hypertriglyceridemia, Morphological abnormality of the mid... OMIM:182290
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Interictal EEG abnormality, EEG with generalized s... ORPHA:79263
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Mildly elevated creatine kinase, Ataxia, Progres... ORPHA:401768
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hypermanganesemia, Rigidity, Increased... OMIM:613280
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Abnormal autonomic nervous system phys... ORPHA:329284
Hyperekplexia-Epilepsy Syndrome
Hypertonia, EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, EEG abnormality, Ataxia, Tremor OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Optic atrophy, Hypertonia ORPHA:33445
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Spasticity, Optic atrophy, Tremor OMIM:300983
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Sensorineural hearing impairment, Sp... ORPHA:79237
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Hsd10 Disease
Choreoathetosis, Hearing impairment, Spastic paraparesis, Ataxia, Rigidity, Optic atrophy, Myoclo... ORPHA:391417
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Glycerol Kinase Deficiency
Low-set ears, Hypertriglyceridemia OMIM:307030
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor fine motor coordination, Hypercholesterolemia ORPHA:254531
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Sensorineural hearing impairment, Tremor, Neutropenia, Hypertonia OMIM:617248
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Facial palsy, Myoclonus, Tremor OMIM:159950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, High-frequency sensorineural hearing impairment, Sensorineural ... ORPHA:2590
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Ataxia, Hypoalbuminemia, Hypertriglyceridemia, Lymphopenia OMIM:617575
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, ... OMIM:619405
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Tremor, Limb hypertonia, Rigidity, Hyperkinetic movements, Hyperphenyl... OMIM:233910
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, EEG abnormality, Apraxia, Gait ataxia, Spasticity, Optic atrophy, Tremor OMIM:617810
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Decreased HDL cholesterol con... OMIM:278000
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Elevated circulating cre... OMIM:619473
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Gait ataxia, Postural tremor, Thrombocytopenia, Myoclonus OMIM:254900
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Atypical Rett Syndrome
EEG abnormality, Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary... ORPHA:3095
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Spastic paraparesis, Tremor ORPHA:101077
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:102
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Developmental And Epileptic Encephalopathy 68
Spasticity, Clonus, Myoclonus, Exaggerated startle response OMIM:618201
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Limb hypertonia, Ataxia, Thrombocytopenia ORPHA:263501
Intellectual Developmental Disorder, X-Linked, Syndromic 13
EEG with generalized slow activity, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoa... OMIM:300055
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Optic atrophy, Tremor OMIM:619470
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Dysmetria, Tremor OMIM:618090
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Bradykinesia, Tremor, L... OMIM:617013
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Ch├ędiak-Higashi Syndrome
Pancytopenia, Spastic paraplegia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophi... ORPHA:167
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potenti... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials, Hemolytic ... ORPHA:529799
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Leukocytosis, Frequent falls, Choreoathetosis, Splenomegaly, Ataxia, Hy... OMIM:615673
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Hand tremor, Dysmetria, Frequent falls, Sensorineural hearing impairment, Parapar... OMIM:302800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy... OMIM:609541
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Lcat Deficiency
Hemolytic anemia, Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, De... ORPHA:650
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Poor gross motor coordination, EEG with spike-wave... ORPHA:228360
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Megalocornea-Intellectual Disability Syndrome
EEG abnormality, Motor stereotypy, Hypercholesterolemia, Sensorineural hearing impairment, Ataxia... ORPHA:2479
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Low-set ears, Ataxia, Gait ataxia, Overfolded helix, Large fleshy ears, Myoclonus, Tr... OMIM:619092
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor ORPHA:306669
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Leg dystonia, Bradykinesia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Adult Krabbe Disease
Tetraparesis, Frequent falls, EEG abnormality, Hoffmann sign, Ataxia, Upper motor neuron dysfunct... ORPHA:206448
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Abnormal autonomic nervous system phys... OMIM:618049
Developmental And Epileptic Encephalopathy 42
EEG abnormality, Athetosis, Ataxia, Tremor, Hypertonia OMIM:617106
Aceruloplasminemia
Increased circulating ferritin concentration, Parkinsonism, Dystonia, Decreased serum iron, Bleph... ORPHA:48818
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Poor coordination,... ORPHA:255
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:98933
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Spastic dysarthria, Brad... ORPHA:282166
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Ataxia, Bilateral sensorineural hearing impairment, Optic atrophy, Tremor OMIM:619422
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Sensorineural hearing impairment,... ORPHA:540
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Chorea, Exaggerated startle r... OMIM:272750
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Mohr-Tranebjaerg Syndrome
Dystonia, Progressive sensorineural hearing impairment, Spasticity, Postlingual sensorineural hea... OMIM:304700
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Athetosis, Limb hypertonia, Limb dystonia, Ton... OMIM:608643
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Spasticity, Low-set ears, Tremor OMIM:618718
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Hand tremor, Frequent falls, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Dystonia, Optic atrophy, Tremor ORPHA:330050
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Low-set ears, Gait ataxia, Spasticity, Protruding ear, Opti... OMIM:617988
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Smith-Magenis Syndrome
EEG abnormality, Motor stereotypy, Hypercholesterolemia, Conductive hearing impairment, Hypertrig... ORPHA:819
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Bilateral sensorineural hearing impairment, Mildly elevated creatine kinase, Decreased nerve cond... ORPHA:397744
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Laron Syndrome
Hypercholesterolemia ORPHA:633
Riboflavin Transporter Deficiency
Progressive hearing impairment, Abnormal cranial nerve morphology, Abnormal autonomic nervous sys... ORPHA:97229
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Low-set ears, Tremor ORPHA:477673
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Tay-Sachs Disease
Incoordination, Ankle clonus, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Increase... ORPHA:845
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Autonomic bladder dysfunct... ORPHA:227510
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Optic disc pallor, Exaggerated startle response, Abnormality of e... ORPHA:320406
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration... ORPHA:713
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Dystonia, Chorea, Exaggerated startle response, Progressive spastic quad... ORPHA:309246
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Optic nerve hypoplasia, Fasciculation... ORPHA:101085
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, EEG abnormality, Gait ataxia, Spasticity, Oculomotor apraxia, Optic atrophy, Tremor ORPHA:529665
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Sensorineural hearing impairment, Ataxia, Hypertriglyceridemia, Abnormal circulati... ORPHA:98907
Megalocornea-Mental Retardation Syndrome
Cupped ear, Hypercholesterolemia, Ataxia, Poor coordination, Large fleshy ears OMIM:249310
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Hearing impairment, Tremor OMIM:278760
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Sensorineural hearing impairment, Hypertriglyceridemia OMIM:615381
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... OMIM:606693
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Progressive spasticity... ORPHA:137898
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Poor fine motor coordination, Hypercholesterolemia ORPHA:96184
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hypertonia, Sensorineural hearing impairment, Tremor ORPHA:1192
O'Sullivan-Mcleod Syndrome
Eosinophilia, Fasciculations, Tremor ORPHA:99965
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positive helper... ORPHA:66628
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Poor coordination, Ataxia, Recurrent hand flapping, Macrotia, Tremor ORPHA:544254
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Lower limb spasticity, Focal EEG discharges with secondary generali... ORPHA:3077
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Fasciculations, Mildly elevated creatine kinase, Decreased nerve co... ORPHA:329478
Neuroferritinopathy
Parkinsonism, Dystonia, Resting tremor, Focal dystonia, Decreased circulating ferritin concentrat... ORPHA:157846
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positive helper... ORPHA:179494
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... OMIM:607483
Microtriplication 11Q24.1
Hyperlipidemia, Speech apraxia, Attached earlobe, Posteriorly rotated ears, Hyperkinetic movement... ORPHA:289522
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Macrocytic anemia, Tremor OMIM:615578
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Optic... OMIM:312080
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Spastic paraplegia, Tremor, EEG with burst suppression, Hypsarrhythmia OMIM:612164
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Bradykinesia, EEG with spike-wave complexes, Ataxia, Poor fine motor coordination... ORPHA:36387
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Low-set ears, Spastic diplegia, Protruding ear, Hearing impairment, Tremor ORPHA:480907
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Tetanus
Hypertonia, Opisthotonus, Autonomic bladder dysfunction, Spasticity of pharyngeal muscles, Abnorm... ORPHA:3299
Dentatorubral Pallidoluysian Atrophy
Action tremor, Dysmetria, Choreoathetosis, Blepharospasm, Optic neuropathy, Involuntary movements... ORPHA:101
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Dysdiadochokinesis, Hemiplegia/... ORPHA:96
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia, Hypertonia ORPHA:79476
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... ORPHA:352649
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Asparagine Synthetase Deficiency
Spastic tetraplegia, Macrotia, Hypsarrhythmia, Exaggerated startle response OMIM:615574
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Macrotia,... OMIM:218000
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Anemia, Rigidity, Exaggerated startle response OMIM:184850
Sialidosis Type 2
Splenomegaly, Ataxia, Hearing impairment, Tremor ORPHA:87876
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Tremor, Limb hypertonia, Ataxia, EEG with multifocal slow activity, Rigidi... ORPHA:442835
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Exaggerated startle response OMIM:618367
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Hypertriglyceridemia, I... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Hypertriglyceridemia, I... ORPHA:261
Infantile Krabbe Disease
Opisthotonus, Spastic diplegia, Lower limb spasticity, Decreased nerve conduction velocity, Prolo... ORPHA:206436
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Hypertriglyceridemia, I... ORPHA:98853
Lipe-Related Familial Partial Lipodystrophy