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
abnormal startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.54×10-21
tremors Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.60×10-05
abnormal auditory brainstem response Cib2tm1b(EUCOMM)Wtsi HOM   Early adult 2.79×10-05
decreased startle reflex Cib2tm1b(EUCOMM)Wtsi HOM Early adult 4.43×10-06
increased circulating triglyceride level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 1.17×10-07
limb grasping Cib2tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
increased circulating HDL cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 9.99×10-06
increased basophil cell number Cib2tm1b(EUCOMM)Wtsi HOM Early adult 8.59×10-05
decreased prepulse inhibition Cib2tm1b(EUCOMM)Wtsi HOM Early adult 7.00×10-21
increased circulating fructosamine level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.23×10-06
abnormal ear morphology Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.72×10-10
increased circulating cholesterol level Cib2tm1b(EUCOMM)Wtsi HOM Early adult 2.14×10-06

Download data as:  TSV  XLS

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lacZ Expression

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

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

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (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

X-ray

XRay Images Hind Leg and Hip

22 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Auditory Brain Stem Response

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

3 Images

Human diseases caused by Cib2 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal 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
Ch├ędiak-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