Gene Summary

Name:
solute carrier family 5 (sodium iodide symporter), member 5
Synonyms:
NIS

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 exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.45×10-07
tremors Slc5a5tm1b(KOMP)Wtsi HOM Late adult 4.74×10-07
decreased bone mineral density Slc5a5tm1b(KOMP)Wtsi HOM Early adult 4.87×10-07
abnormal auditory brainstem response Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 2.44×10-08
abnormal sleep behavior Slc5a5tm1b(KOMP)Wtsi HOM Early adult 5.33×10-06
increased circulating alkaline phosphatase level Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.36×10-13
corneal deposits Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.19×10-05
increased startle reflex Slc5a5tm1b(KOMP)Wtsi HOM Early adult 2.29×10-05
abnormal coat appearance Slc5a5tm1b(KOMP)Wtsi HOM Late adult 4.74×10-07
increased circulating HDL cholesterol level Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 1.51×10-05
abnormal gait Slc5a5tm1b(KOMP)Wtsi HOM Late adult 1.66×10-05
decreased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Late adult 1.39×10-06
hyperactivity Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.08×10-27
decreased vertical activity Slc5a5tm1b(KOMP)Wtsi HOM Late adult 1.93×10-06
decreased prepulse inhibition Slc5a5tm1b(KOMP)Wtsi HOM Early adult 5.90×10-07
decreased exploration in new environment Slc5a5tm1b(KOMP)Wtsi HOM Early adult 7.36×10-06
improved glucose tolerance Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 2.48×10-05
increased circulating cholesterol level Slc5a5tm1b(KOMP)Wtsi HOM   Early adult 7.29×10-05
decreased urine creatinine level Slc5a5tm1b(KOMP)Wtsi HOM Early adult 1.78×10-07

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
Ovary  Section images heterozygote Not available
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Adult LacZ

LacZ Images Section

2 Images

Auditory Brain Stem Response

Click +20dB+50dB waveforms (pdf format)

2 Images

Auditory Brain Stem Response

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

6 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Slc5a5 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 Slc5a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716

The table below shows human diseases predicted to be associated to Slc5a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu... OMIM:274500
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre... OMIM:188570
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia, Abnormal pyramida... ORPHA:85292
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Ataxia-Oculomotor Apraxia Type 1
Medial flaring of the eyebrow, Ataxia, Gait disturbance ORPHA:1168
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Cognitive impairme... ORPHA:401901
Thyroid Cancer, Nonmedullary, 4
Goiter, Ovarian neoplasm, Papillary thyroid carcinoma OMIM:616534
Pendred Syndrome
Goiter, Thyroid carcinoma, Compensated hypothyroidism OMIM:274600
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls, Dementia OMIM:118700
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Blepharochalasis And Double Lip
Goiter OMIM:109900
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Cognitive impairment, Ataxia OMIM:611105
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Dystonia 12
Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Parki... OMIM:128235
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter OMIM:180295
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid... OMIM:613239
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Gait disturbance, Rigidity, Dementia, Abnormal pyramidal sign OMIM:118750
Spinocerebellar Ataxia Type 12
Bradykinesia, Dementia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance... ORPHA:98762
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma ORPHA:319487
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Spasticity, Tremor,... ORPHA:79262
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Dementia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia ORPHA:94122
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Dementia, Oromotor apraxia, Progressive extrapyramidal musc... ORPHA:454887
Autosomal Spastic Paraplegia Type 72
Spastic gait, Memory impairment, Rigidity, Postural tremor ORPHA:401849
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Mental deterioration ORPHA:309169
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Goite... OMIM:275000
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:616710
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Polydipsia, Rickets, Hypokalemia, Cognitive impairment, Hyperph... ORPHA:411629
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Papillary thyroid carcinoma ORPHA:97290
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cognitive impairment, Unsteady ga... OMIM:615768
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Memory impairment, Depression, Spasticity, Limb dystonia, Gait ataxia... ORPHA:101109
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Atypical Pantothenate Kinase-Associated Neurodegeneration
Irritability, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron ... ORPHA:216873
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Rigidity, Dystonia, Parkinsonism, Dementia OMIM:605909
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Mental deterioration, Myoclonus OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Abnormality of extrapyramidal motor function, Depression, Confusion, Tre... OMIM:615362
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Head tremor, Actio... OMIM:604326
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Memory impairment, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait ... OMIM:213600
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Cognitive impairm... OMIM:615528
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hearing impairment,... OMIM:144300
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creati... ORPHA:411634
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:225250
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Depression, Tremor, Myoclonus OMIM:159900
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Thyroi... ORPHA:95716
Migraine, Familial Hemiplegic, 1
Confusion, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia, Diminished ability to concentrate OMIM:301033
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism ORPHA:97285
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Cystinosis, Nephropathic
Recurrent corneal erosions, Polydipsia, Generalized aminoaciduria, Renal Fanconi syndrome, Cornea... OMIM:219800
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Memory impairment, Depression, Falls, Tremor, Parkinsonism with favorable response ... ORPHA:240085
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Mental deterioration, Spasticity, Tremor, Frequent fa... OMIM:611302
Huntington Disease-Like 2
Bradykinesia, Irritability, Memory impairment, Subcortical dementia, Chorea, Depression, Action t... OMIM:606438
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Emotional lability, Depression, Craniofacial dystonia,... ORPHA:71517
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Spinocerebellar Ataxia 48
Babinski sign, Irritability, Depression, Chorea, Mental deterioration, Tremor, Gait ataxia, Dysto... OMIM:618093
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Attention def... OMIM:620211
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:620482
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Pendred Syndrome
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism ORPHA:705
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturban... OMIM:617145
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Cognitive impairment, Gait distu... OMIM:612067
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Cognitive impairment, Rigidity, ... ORPHA:98763
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Depression, Truncal ataxia, Tremor,... ORPHA:98764
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:99819
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Mental de... OMIM:615924
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi... ORPHA:226316
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Progressive ... ORPHA:401820
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Memory impairment, Tremor, Ataxia, Loss of ambulation, Myoclonus OMIM:614018
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Corneal crystals, Proteinuria OMIM:219900
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, EEG abnormality,... OMIM:239500
Hyperphenylalaninemia, Bh4-Deficient, C
Irritability, Hypertonia, Tremor, Dystonia, Progressive neurologic deterioration, Myoclonus, Chor... OMIM:261630
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor, Waddling gait, Inability to walk OMIM:616269
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking OMIM:615048
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Ataxia, Unsteady gait, Abnormal pyramida... OMIM:616948
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Spinocerebellar Ataxia 35
Babinski sign, Difficulty walking, Torticollis, Incoordination, Intention tremor, Ataxia, Loss of... OMIM:613908
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo... ORPHA:424
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Basal Ganglia Calcification, Idiopathic, 5
Memory impairment, Depression, Chorea, Athetosis, Cognitive impairment, Parkinsonism, Dementia, P... OMIM:615483
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad... ORPHA:163634
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Depression, Memory impairment, Hyperostosis frontalis interna, Osteoporosis, Cogni... ORPHA:77296
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter ORPHA:142
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Mental deterioration, Dysdiadochokine... OMIM:620453
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Dementia, Subcortical dementia, Chorea, Spasticity, ... OMIM:606159
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Galactokinase Deficiency
Hyperinsulinemia, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hype... ORPHA:79237
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Saccharopinuria
Elevated circulating saccharopine concentration, Histidinuria, Elevated urinary saccharopine leve... OMIM:268700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Memory impairment, Progressive extrapyramidal muscular rigid... ORPHA:240103
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Short attention span, Ataxia, Myoclonus, Impaired tandem gait, Dys... OMIM:619028
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal... OMIM:261600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Dystonia, Progressive neurologic deterioration, Opacification of ... OMIM:252650
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Falls, Resting tremor, Gait ataxia, Spastic paraplegia, Ataxia, Park... OMIM:617225
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Depression, Parkinsonism with favorable response to dopaminergic me... OMIM:619279
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Optic nerve hypoplasia, Short attention span, Hyperlysinemia, Cogniti... OMIM:238700
Glycine Encephalopathy 1
Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggress... OMIM:605899
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha... ORPHA:240094
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Cogni... OMIM:607346
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Corneal arcus, Decreased HDL cholesterol concentration, Proteinuria, Renal ... OMIM:245900
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Depression, Tremor, Cognitive impairment, Ataxia, Spastic ataxia, Un... OMIM:616795
Saccharopinuria
Elevated plasma citrulline, Citrullinuria, Hypercystinemia, Tremor, Hyperlysinemia, Cognitive imp... ORPHA:3124
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Dementia, Depression, Chorea, Confusion, Broad-based gait, Ga... OMIM:607136
Spinocerebellar Ataxia 50
Apraxia, Memory impairment, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Phenylketonuria
Lower limb spasticity, Depression, Tremor, Short attention span, Ataxia, Dementia ORPHA:716
Leukoencephalopathy With Calcifications And Cysts
Emotional lability, Spasticity, Tremor, Gait disturbance, Cognitive impairment, Dystonia, Ataxia,... ORPHA:542310
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Motor deterioration, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clum... OMIM:256731
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Caribbean Parkinsonism
Bradykinesia, Apraxia, Dementia, Frontal lobe dementia, Action tremor, Rigidity, Dystonia, Parkin... ORPHA:97355
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla... OMIM:218700
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Memory impairment, Depression, Truncal ataxia, Spasticity, Tr... OMIM:137440
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Irritability, Generalized dystonia, Oculogyric crisis, Abnormality o... ORPHA:101150
Cowden Syndrome 7
Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis OMIM:616858
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I... OMIM:616127
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Chorea, Spasticity, Tremor, Poor fine motor coordination, Motor deterioration, Myocloni... ORPHA:79263
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Postural hypotension with compensatory tachycardia, Corneal ulceratio... OMIM:256800
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Gait disturbance ORPHA:276435
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification, Increased urinary dis... OMIM:271630
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Cowden Syndrome 5
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615108
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal dementia, Axial dystonia, Res... OMIM:612953
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Action tremor, Dystonia, Ataxia, ... OMIM:619738
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... ORPHA:90674
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Elevated circulating creatine kinase concentration, Cognitive impairment, Dystonia, Demen... OMIM:208920
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Irritability, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hartnup Disorder
Hyperactivity, Emotional lability, Attention deficit hyperactivity disorder, Elevated urinary ind... OMIM:234500
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Hirsutism, Gait ataxia, Intention t... OMIM:610185
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Park... OMIM:261640
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormal middle ear morphology, Abnormal nerve conduc... OMIM:182290
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tr... ORPHA:3077
Stxbp1-Related Encephalopathy
Inability to walk, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Decreased motor nerve conduction velocity OMIM:607250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Cowden Syndrome 6
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te... OMIM:615109
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Hypertonia, Steppage gait, Spasticity, Tremor, Mental deterioration OMIM:609260
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Dementia, Spasticity, Parkinsonis... OMIM:606693
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Glut1 Deficiency Syndrome 2
Irritability, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Thyrotoxicosis with diffus... ORPHA:525731
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Dementia, Memory... ORPHA:101
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Memory impairment, Resting tremor, Depression, Poor fine motor coordination, Dysdia... OMIM:300623
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Corneal arcus OMIM:614025
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Dementia, Resting tremor, Depression, Shuffling gait, Gait disturbance, Rigidity, D... OMIM:168601
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Head t... ORPHA:64753
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Hyperactivity, Depression, Low-set ears, Cognitive impairment, Posteriorly rota... OMIM:601853
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis, ... OMIM:300894
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ... OMIM:618049
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Cognitive impairment, Rigidity, Ataxia, Dementia OMIM:603472
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis ORPHA:101077
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Autosomal Dominant Spastic Paraplegia Type 9B
Spastic gait, Babinski sign, Spastic dysarthria, Dementia, Upper motor neuron dysfunction, Focal ... ORPHA:447757
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Ocular Cystinosis
Corneal crystals ORPHA:411641
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Oculomotor apraxia, Spasticity, Tremor, Poor motor coordin... ORPHA:1170
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Manganese Poisoning
Bradykinesia, Irritability, Hypertonia, Akinesia, Memory impairment, Abnormality of extrapyramida... ORPHA:306682
Mccune-Albright Syndrome
Increased serum testosterone level, Abnormal testis morphology, Precocious puberty, Ovarian cyst,... ORPHA:562
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Spastic paraparesis ORPHA:329284
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Irritability, Progressive cerebellar ataxia, Spastic dysarthria, Spa... ORPHA:282166
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Pro... ORPHA:254881
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Impai... OMIM:604278
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... ORPHA:567548
Cowden Syndrome 1
Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Ovarian carc... OMIM:158350
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Spasticity, Tremor, Rigidity, At... ORPHA:33445
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Irritability, Inability to walk, Chorea, Confusion... OMIM:607483
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Aicardi-Goutieres Syndrome 6
Irritability, Tremor, Rigidity, Dystonia, Loss of ambulation OMIM:615010
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hsd10 Disease
Tremor, Short attention span, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis,... ORPHA:391417
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Tremor, Blepharospasm, Cognitive impairment, Ataxia, Myoclonus OMIM:607876
Landau-Kleffner Syndrome
Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention span, Impulsivi... ORPHA:98818
Carney Complex, Type 1
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... OMIM:160980
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterolemia, Recurrent otitis... ORPHA:254531
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Dystonia, Elevated circulating alpha-fetoprotein concentration, Hypoalbumin... OMIM:616267
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacif... OMIM:215250
Ataxia With Vitamin E Deficiency
Hypertonia, Mental deterioration, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemipa... ORPHA:96
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Myoclonus, Frequent falls, Dementia OMIM:159950
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... OMIM:205400
Progressive Supranuclear Palsy
Bradykinesia, Irritability, Memory impairment, Depression, Emotional lability, Falls, Tremor, Ble... ORPHA:683
Late-Infantile/Juvenile Krabbe Disease
Irritability, Difficulty walking, Lower limb spasticity, Emotional lability, Mental deterioration... ORPHA:206443
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi... ORPHA:289560
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Spasticity, Tremor, Ataxia OMIM:300983
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Depression, Tremor, Rigidity, Dystonia, Parkinsonism, Dementia, Sho... OMIM:168600
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Hyperphenylalaninemia, Bh4-Deficient, B
Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Progressive ne... OMIM:233910
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... ORPHA:157846
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Protruding ear, Sens... ORPHA:2479
Norrie Disease
Optic atrophy, Buphthalmos, Dementia, Sensorineural hearing impairment, Corneal opacity, Hypoplas... OMIM:310600
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Inability to walk... OMIM:128100
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia ORPHA:477673
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Mucolipidosis Iii Gamma
Claw hand deformity, Shoulder contracture, Increased serum beta-hexosaminidase, Finger joint cont... OMIM:252605
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Cognitive impairment, R... ORPHA:70594
Alpha-Methylacyl-Coa Racemase Deficiency
Depression, Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Epilepsy, Familial Adult Myoclonic, 4