Gene Summary

Name:
TAR DNA binding protein
Synonyms:
1190002A23Rik,  TDP-43,  Tdp43

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
decreased blood urea nitrogen level Tardbptm1b(EUCOMM)Wtsi HET Early adult 2.70×10-05
decreased mean platelet volume Tardbptm1b(EUCOMM)Wtsi HET Early adult 1.38×10-28
abnormal startle reflex Tardbptm1b(EUCOMM)Wtsi HET Early adult 3.18×10-09
preweaning lethality, complete penetrance Tardbptm1b(EUCOMM)Wtsi HOM   Early adult 0.00
embryonic lethality prior to organogenesis Tardbptm1b(EUCOMM)Wtsi HOM   E9.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
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
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount 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)
Bone 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder 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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
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)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Parathyroid gland 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 0.0% (0 of 2)
Skeletal muscle 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)
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)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Auditory Brain Stem Response

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

4 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Spasticity, Babinski sign, Skeletal muscle atrophy OMIM:612069
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor functio... ORPHA:275872
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Spasticity, Neurodegeneration, Amyotrop... ORPHA:803

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Hand muscle atrophy, Dystonia, Spastic tetraparesis, Spas... OMIM:205100
X-Linked Complicated Spastic Paraplegia Type 1
Cognitive impairment, Mental deterioration, Ataxia, Spastic paraplegia, Upper motor neuron dysfun... ORPHA:306617
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, EMG: myotonic runs, Handgrip myotonia, Myotonia with warm-up pheno... OMIM:160800
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Tongue fasciculations, Spi... OMIM:271150
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, M... ORPHA:684
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Spasticity, Babi... OMIM:602099
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Abnormal lower motor neuron morphology, Lower limb muscle weakness, Vocal co... OMIM:607641
Spinal Muscular Atrophy, Type Iii
Hand tremor, Limb fasciculations, Skeletal muscle atrophy, Degeneration of anterior horn cells, T... OMIM:253400
Spinal Muscular Atrophy, Type Ii
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Tongue fasciculations,... OMIM:253550
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Memory impairment, Dementia, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Familial Infantile Bilateral Striatal Necrosis
Spastic tetraparesis, Dystonia, Lower limb muscle weakness, Atrophy/Degeneration involving the ca... ORPHA:225154
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of... ORPHA:65684
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Skeletal muscle atrophy, Spastic dys... ORPHA:247604
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Tetraparesis, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Neonatal hypotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Fasciculations, Degeneration of anterior horn cells, Degeneration of the... OMIM:105400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Li... OMIM:167320
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, First dorsal interossei muscle atrophy, Spastic gait, Lower limb muscle w... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, First dorsal interossei muscle atrophy, Spastic gait, Lower limb muscle w... OMIM:612335
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Fasciculations, Degeneration of anterior horn cells, Ataxia, Generalized h... OMIM:607596
Thomsen And Becker Disease
Myotonia ORPHA:614
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Progressive distal muscular ... OMIM:159950
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Fasciculations, Amyotrophic lateral sclerosis, Proximal ... OMIM:608030
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Proximal a... OMIM:604484
Basal Ganglia Calcification, Idiopathic, 6
Cognitive impairment, Parkinsonism, Choreoathetosis, Memory impairment, Dementia, Involuntary mov... OMIM:616413
Amyotrophic Lateral Sclerosis 18
Fasciculations, Amyotrophic lateral sclerosis, Spasticity, Skeletal muscle atrophy OMIM:614808
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spastic Paraplegia 62, Autosomal Recessive
Thoracic scoliosis, Spastic gait, Skeletal muscle atrophy, Lower limb spasticity, Clonus, Spastic... OMIM:615681
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Imp... ORPHA:95434
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Striatal Degeneration, Autosomal Dominant 2
Parkinsonism, Mental deterioration, Chorea OMIM:616922
Myotonia Congenita, Autosomal Recessive
EMG: myotonic runs, Myotonia with warm-up phenomenon, Percussion myotonia, Myotonia OMIM:255700
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Impaired temperat... DECIPHER:29
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Opisthotonus, Scoliosis, Clonus, Skeletal muscle atrophy, Axial dystonia, Head titubati... ORPHA:300605
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Distal amyot... OMIM:617018
Autosomal Spastic Paraplegia Type 30
Leg muscle stiffness, Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, ... ORPHA:101010
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Senile plaques, Astrocytosis, Temporal cortical atrophy, ... ORPHA:100070
Huntington Disease
Clonus, Decreased body mass index, Polyphagia, Involuntary movements, Rigidity, Memory impairment... ORPHA:399
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Cerebral cortica... OMIM:616437
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Spastic paraplegia, Scissor gait, Clonus, Impaired vibration sensation a... OMIM:615686
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity dis... ORPHA:369873
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Spasticity, Babinski sign, Skeletal muscle atrophy OMIM:612069
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, Ataxia, Gait ataxia, ... ORPHA:488594
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Skeletal muscle atrophy, Scissor gait, Spasticity, Hypertonia ORPHA:401805
Autosomal Recessive Spastic Paraplegia Type 62
Thoracic scoliosis, Spastic gait, Skeletal muscle atrophy, Lower limb spasticity, Knee flexion co... ORPHA:401785
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Upper limb spasticity, Lower limb ... OMIM:611225
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Spastic Paraplegia 43, Autosomal Recessive
Spastic paraplegia, Ankle flexion contracture, Knee flexion contracture, Distal sensory impairmen... OMIM:615043
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Cerebra... OMIM:606353
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Amyotrophic Lateral Sclerosis Type 4
Abnormal pyramidal sign, Somatic sensory dysfunction, Skeletal muscle atrophy, Spastic paraplegia... ORPHA:357043
Spastic Paraplegia 31, Autosomal Dominant
Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness, Spastic paraplegia, Lower limb... OMIM:610250
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Degeneration of anterior horn cells, Scoliosis,... OMIM:301830
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Impaired vibratory sensation, Spastic paraparesis, Ankle flexion contracture, Knee ... ORPHA:320370
Frontotemporal Dementia
Parkinsonism, Polyphagia, Frontal lobe dementia, Frontotemporal dementia, Amyotrophic lateral scl... OMIM:600274
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Neuronopathy, Distal Hereditary Motor, Type I
Upper limb muscle weakness, Distal amyotrophy, Impaired vibration sensation at ankles, Babinski s... OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle atrophy, Upper limb... OMIM:601472
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
Parkinsonism, Deficit in phonologic short-term memory, Mental deterioration, Limb apraxia, Speech... ORPHA:240112
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Lower limb muscle weakness, Lower limb spasticity, Ataxia, Spasticity, Dist... ORPHA:100985
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Cerebral cortical atrophy, Babinski sign, Amyotrophic lateral sclerosis OMIM:615911
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Fasciculations, Neuronal loss in central nervous system, Postural tremor... OMIM:608627
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Vestibular nystagmus, Abnormal pyramidal sign, Senile plaque... ORPHA:282166
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Skeletal muscle atroph... ORPHA:3115
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Hyperlordosis, Scoliosis, Dis... OMIM:611067
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Cognitive impairment, Dementia, Motor deterioration, Mental deterioratio... ORPHA:79262
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Myoclonus, Tremor OMIM:616187
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Spinal muscular atrophy, Calf... OMIM:615048
Myotonia Fluctuans
Myotonia of the upper limb, Spasticity of facial muscles, Neonatal hypotonia, Myotonia of the fac... ORPHA:99734
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Frequent falls, Proximal muscle weakness in low... ORPHA:482601
Spastic Paraplegia 2, X-Linked
Spinocerebellar tract degeneration, Flexion contracture, Dysmetria, Spastic gait, Skeletal muscle... OMIM:312920
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Dementia, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor, Distal amyotrophy OMIM:158580
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of the striatum, Spinoce... ORPHA:276244
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Foot dorsiflexor weakness, Spastic tetraparesis, Optic atrophy, Progressive s... ORPHA:496756
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, D... OMIM:215470
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Babinski sign, Skeletal muscle atrophy OMIM:612539
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor functio... ORPHA:275872
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Scoliosis, Distal ... ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cognitive impairment, Ataxia, Truncal ataxia OMIM:617584
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Astrocytosis, Rigidity, Cerebral cortical atrophy, Neuronal loss in central nervous sys... OMIM:600795
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Epilepsy, Progressive Myoclonic, 8
Dementia, Cognitive impairment, Myoclonus OMIM:616230
Miyoshi Myopathy
Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs... ORPHA:45448
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Skeletal muscle atrophy OMIM:614369
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head trem... ORPHA:352641
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Cerebellar atrophy, Dystonia, Skeletal muscle atrophy, Ataxia, Generalized hypotoni... OMIM:618276
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Short neck, Kyphosis, Skeletal muscle atrophy, Paucity of anterior ho... OMIM:611890
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Foot dorsiflexor weakness, Spastic tetraplegia, Optic atrophy, Ataxia, Genera... OMIM:617207
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Cognitive impairment, Parkinsonism, Memory impairment, Ataxia, Upper motor neuron dysfunction, Ri... ORPHA:401901
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Generalized amyotrophy, Increased variability in muscle fibe... ORPHA:52430
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Babinski sign, Spastic paraplegia OMIM:617046
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Triceps weakness, Frequent falls, Flexion contracture, Somatic sensory dysfunction, Im... ORPHA:99947
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, ... ORPHA:171863
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Generalized hypotonia, Ataxia, Tremor OMIM:213000
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Distal upper limb amyotrophy, ... OMIM:619519
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Generalized amyotrophy, Lower limb spasticity, Cere... ORPHA:401820
Spastic Paraplegia 73, Autosomal Dominant
Babinski sign, Spastic paraplegia, Skeletal muscle atrophy OMIM:616282
Macrosomia Adiposa Congenita
Polyphagia, Obesity, Large for gestational age OMIM:248100
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Huntington Disease-Like 2
Parkinsonism, Caudate atrophy, Dystonia, Involuntary movements, Cerebral cortical atrophy, Chorea... ORPHA:98934
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Spasticity, Neurodegeneration, Amyotrop... ORPHA:803
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Skeletal muscle atrophy, Impaired pain sensation, Ataxia, Decreased nerve conduction ve... ORPHA:101078
X-Linked Progressive Cerebellar Ataxia
Foot dorsiflexor weakness, Spinocerebellar tract degeneration, Dysmetria, Frequent falls, Intenti... ORPHA:1175
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Proximal m... ORPHA:101077
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Hereditary Motor And Sensory Neuropathy V
Abnormal pyramidal sign, Frequent falls, Foot dorsiflexor weakness, Limb muscle weakness, Distal ... OMIM:600361
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Skeletal muscle atrophy, Limb muscle weakness, Progressive gait at... OMIM:607458
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic... OMIM:607225
Spinocerebellar Ataxia Type 43
Foot dorsiflexor weakness, Cerebellar vermis atrophy, Cogwheel rigidity, Progressive cerebellar a... ORPHA:497764
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contra... ORPHA:521406
Myopathy, X-Linked, With Excessive Autophagy
Neonatal hypotonia, Myotonia OMIM:310440
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Limb muscle weakness, Decreased senso... OMIM:609260
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysart... ORPHA:251282
Pick Disease Of Brain
Polyphagia, Frontotemporal dementia OMIM:172700
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Dementia, Ataxia, Tremor OMIM:301840
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Kyphosis, Upper limb spasticity, Lower limb m... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Distal amyotrophy, Bab... OMIM:607317
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Foot dorsiflexor weakness, Spastic gait, Abnormal motor nerve conduction vel... ORPHA:100998
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Spinocerebellar Ataxia 19
Cognitive impairment, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia,... OMIM:607346
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired proprioception, Impaired vibratory sensation, Upper limb spasticity,... OMIM:619686
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Impaired distal vibration sensation, Somatic sensory dysfuncti... OMIM:615025
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Ataxia, Hypotonia, G... OMIM:500002
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Kyphosis, Distal sensory impairment, Optic disc pallor, Scoliosis, Opt... OMIM:617087
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Narcolepsy Type 1
Obesity, Cataplexy, Slurred speech, Transient global amnesia ORPHA:2073
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Small for gestational age, Degeneration of anterior horn cells, Axonal degeneration, Decreased ne... OMIM:604320
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Cerebral cortical atrophy, Spasticity, Babinski ... OMIM:607694
Childhood Disintegrative Disorder
Progressive language deterioration, Motor stereotypy, Dementia, Motor deterioration, Mental deter... ORPHA:168782
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Generalized hypotonia, Distal amyotrophy, Kyphoscoliosis, Tremor OMIM:619099
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Dysequilibrium Syndrome
Hypotonia, Ataxia, Cerebral palsy, Skeletal muscle atrophy ORPHA:1766
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Foot dorsiflexor weakness, Flexio... OMIM:619216
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Skeletal muscle atrophy, Knee flexion contractur... OMIM:616286
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Diffuse cerebral atrophy, Spastic paraplegia, Tremor OMIM:300660
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Generalized amyotrophy, Progressive cerebellar ataxia, Progressive gait ataxia,... ORPHA:2589
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Proximal lower limb amyotrophy, Proximal muscle weakness in lower li... OMIM:158600
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Lower limb muscle weakn... ORPHA:2590
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb muscle weakness, S... OMIM:610357
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Decreased nerve conduction velocity, ... ORPHA:600
Spastic Paraplegia 76, Autosomal Recessive
Dysmetria, Skeletal muscle atrophy, Lower limb muscle weakness, Spastic paraplegia, Ataxia, Lower... OMIM:616907
Acetazolamide-Responsive Myotonia
Hypertonia, Myotonia ORPHA:99736
Behr Syndrome
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Hamst... OMIM:210000
Autosomal Dominant Spastic Paraplegia Type 38
Thenar muscle weakness, Progressive spastic paraplegia, First dorsal interossei muscle atrophy, F... ORPHA:171617
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Gerstmann-Straussler-Scheinker Syndrome
Cognitive impairment, Dementia, Mental deterioration, Gait ataxia, Paresthesia, Dysesthesia, Limb... ORPHA:356
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle atrophy, Upper limb... OMIM:600794
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Low... ORPHA:100999
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Spinocerebellar Ataxia 14
Dysmetria, Memory impairment, Mental deterioration, Gait ataxia, Progressive cerebellar ataxia, D... OMIM:605361
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Impaired pain sensation, Spastic paraplegia, Abnormal autonomic n... ORPHA:139578
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb muscle weakness, Spastic paraplegia, Lower limb spasticity, Impaired vib... OMIM:600363
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity, Abnormal eating behavior OMIM:614962
Idiopathic Camptocormia
Cerebral atrophy, Myositis, Abnormal muscle fiber dysferlin, Syringomyelia, Dystonia, Parkinsonis... ORPHA:1320
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Skeletal muscle atrophy ORPHA:85162
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Distal sensory impairment, Foot dorsiflexor weakness, Spinal muscular atrophy, Skeletal muscle at... OMIM:614881
Spinocerebellar Ataxia Type 38
Gait ataxia, Cerebellar atrophy, Somatic sensory dysfunction, Tremor ORPHA:423296
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Paraparesis, Scoli... ORPHA:99014
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Cognitive impairment, Obesity, Ataxia, Unsteady gait, Tr... OMIM:614947
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Poor coordination, Broad-based gait ORPHA:171829
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... OMIM:606777
Spinocerebellar Ataxia Type 14
Cognitive impairment, Somatic sensory dysfunction, Gait ataxia, Progressive cerebellar ataxia, Ri... ORPHA:98763
Gemignani Syndrome
Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy ORPHA:2074
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Parkinsonism, Orthostatic hypotension, Peroneal muscle atrophy, Degeneration of anterior horn cel... OMIM:118301
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Skeletal muscle atrophy, Ataxia, Generalized hypotonia, Scoliosis, Rigidity OMIM:618239
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Tremor OMIM:615945
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Scoliosis, Spasticity, Clumsiness, Babinski sign, Spastic a... OMIM:270500
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Increased variability in muscle fiber diameter, Hand musc... OMIM:606070
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Cognitive impairment, Intention tremor, Dem... ORPHA:98762
Porphyria, Acute Hepatic
Paralysis, Paresthesia, Generalized hypotonia, Respiratory paralysis, Failure to thrive, Hypotonia OMIM:612740
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Astrocytosis, Fasciculations, Upper motor neuron dysfunction, Frontotemporal ce... ORPHA:275864
Episodic Ataxia, Type 2
Dystonia, Myotonia OMIM:108500
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity ORPHA:329249
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Fasciculations, Bradykinesia, Ataxia, Decreased nerve conduction velocit... OMIM:183050
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Memory impairment, Bradykinesia, Mental deterio... OMIM:618317
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Impaired proprioception, Impaired vibratory sensation, Limb dystonia, Failure to thrive... ORPHA:319199
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Lower limb amyotrophy, Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Foot d... ORPHA:90103
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Spastic paraplegia, Paresthesia, Distal sensory impairment... OMIM:263570
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Microcephaly, Obesity, Emotional lability OMIM:309585
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Hypomimic fa... OMIM:260300
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Caudate atrophy, Dys... OMIM:617435
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Foot dorsiflexor weakness, Ankle flexion contracture, Distal sensory impairment, Kyphoscoliosis, ... OMIM:616668
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Spasticity, Hem... ORPHA:71277
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Generalized neonatal hypotonia, Scoliosis, Impaired distal proprio... ORPHA:99948
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Cervical spinal cord atrophy, Optic nerve hypoplasia, Sc... ORPHA:101085
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Dystonia, Kyphosis, Obesity, Lower limb spasticity, Ataxia, Lumbar hyperlordosi... OMIM:616756
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Babinski sign, Gliosis, Abnormal upper mo... OMIM:221770
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia,... ORPHA:100988
Spastic Paraplegia 79, Autosomal Recessive
Intention tremor, Spastic paraplegia, Head titubation, Myotonia OMIM:615491
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Tremor OMIM:600116
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Flexion contracture, Skeletal muscle atrophy, Failure to thrive, Cerebral c... OMIM:616081
3-Methylglutaconic Aciduria, Type Iii
Cognitive impairment, Ataxia, Spasticity, Chorea, Abnormality of extrapyramidal motor function, B... OMIM:258501
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Global brain atrophy, Spastic dysa... ORPHA:94124
Spinal Muscular Atrophy, Distal, X-Linked 3
Distal sensory impairment, Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Cognitive impairment, Ataxia, Tetraplegia OMIM:616267
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cognitive impairment, Unsteady gait, Spasticity, Limb ataxia, Truncal ataxia, Babin... OMIM:615768
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Progressive spastic paraplegia, Proximal muscle weakness in upper limbs, L... ORPHA:496689
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Memory impairment, Progressive language deteriorati... OMIM:607485
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Oral motor hypotonia, Bradykinesia, Atax... ORPHA:248111
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Gait ataxia, Distal sensory impairment, Decreased motor nerve conduction velocity,... OMIM:180800
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Fasciculations, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia OMIM:137200
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip... OMIM:600175
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Scoliosis, Vocal cord paralysis, Decreased motor nerve conduction velocity ORPHA:640
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Sk... OMIM:615157
Pleoconial Myopathy With Salt Craving
Paralysis, Neonatal hypotonia, Myopathy, Proximal amyotrophy OMIM:262900
Leukodystrophy, Hypomyelinating, 18
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Flexion contracture,... OMIM:618404
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Memory impairment, Inertia, Anxiety, Dementia, Motor deterioration, Inappropriate behavior, Apath... ORPHA:412066
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Generalized hypotonia, ... OMIM:617862
Mitochondrial Complex I Deficiency, Nuclear Type 23
Generalized hypotonia, Scoliosis, Dystonia, Skeletal muscle atrophy OMIM:618244
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Zebra Body Myopathy
Torticollis, Handgrip myotonia, Neonatal hypotonia ORPHA:97240
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Vocal cord paresis, Sensory ataxia, Limb muscle weakness, Distal sensory... OMIM:614895
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Generalized hypotonia, Spasticity, Hypotonia, Gli... OMIM:213200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dystonia, Parkinsonism, Oromandibular... OMIM:614298
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity ORPHA:356996
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Flexion contracture, Spastic gait, Upper limb spasticity, Lower li... OMIM:275900
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Spastic Paraplegia 3, Autosomal Dominant
Spastic gait, Lower limb muscle weakness, Spastic paraplegia, Lower limb spasticity, Impaired vib... OMIM:182600
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Involuntary movements, Fasciculations, General... OMIM:300816
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Frequent falls, Cerebellar vermis atrophy, Hoffmann sign, Ata... OMIM:618438
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Weakness of the intrinsic hand muscles, Lower limb muscle weakness, Fascic... OMIM:615575
Bardet-Biedl Syndrome 12
Cognitive impairment, Obesity OMIM:615989
Insulinoma
Abnormality of pain sensation, Paresthesia, Transient global amnesia, Polyphagia, Increased body ... ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:610743
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Generalized dystonia, Motor stereotypy... ORPHA:98807
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Dysdiadocho... ORPHA:363710
Glutathionuria
Tremor OMIM:231950
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Limb... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Foot dorsiflexor weakness, Ataxia, Gait ataxia, Distal sensory imp... OMIM:618387
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Autosomal Recessive Spastic Paraplegia Type 26
Dystonia, Skeletal muscle atrophy, Lower limb spasticity, Scoliosis, Cerebral cortical atrophy, I... ORPHA:101006
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Obesity, Spastic paraplegia, Ataxia, Lower limb spasticity, Knee clonus, Impaired v... OMIM:604360
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Hypotonia, Generalized hypotonia, Increased ... OMIM:612016
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor functio... OMIM:615362
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal sensory impairment, Distal amyotrophy OMIM:608323
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity... ORPHA:868
Bethlem Myopathy 1
Skeletal muscle atrophy, Limb-girdle muscle weakness, Ankle flexion contracture, Neonatal hypoton... OMIM:158810
Spinocerebellar Ataxia Type 20
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Paralysis, Astrocytosis, Ataxia, Generalized hypotonia, Failure to thrive, Hy... OMIM:203700
Microcephaly, Seizures, And Developmental Delay
Hypotonia, Cerebellar atrophy, Ataxia, Skeletal muscle atrophy OMIM:613402
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Ataxia, Rigidity, Cerebral cortical atrophy, Spasticit... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb amyotrophy, Atrophy of the spinal cord, Impaired vibratory sensation, Upper limb spast... ORPHA:100986
Gm1-Gangliosidosis, Type Iii
Kyphosis, Dystonia, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Platyspondyly,... OMIM:230650
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal sensory impairment, Scoliosis, Distal am... OMIM:608673
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, Peroneal muscle atrophy... ORPHA:100989
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Parkinsonism, Dementia, Athetosis, Chorea, Motor tics OMIM:615483
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Axial hypotonia, Chorea, Tremor ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 74
Progressive spastic paraplegia, Cerebellar atrophy, Distal amyotrophy, Distal lower limb muscle w... ORPHA:468661
Spinocerebellar Ataxia Type 28
Kinetic tremor, Parkinsonism, Cognitive impairment, Memory impairment, Head tremor, Gait ataxia, ... ORPHA:101109
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Hyperphenylalaninemia, Bh4-Deficient, D
Generalized hypotonia, Hypertonia, Tremor OMIM:264070
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Sensory ataxia, Decreased sensory nerve cond... ORPHA:101081
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Writer's cramp, Myotonia ORPHA:324442
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Progressive cerebellar ataxia, Hypotonia, Abnormality of extrapyramidal ... OMIM:164400
Myotonic Dystrophy 1
Hypotonia, Generalized hypotonia, Myotonia OMIM:160900
Dystonia 9
Abnormal pyramidal sign, Cognitive impairment, Choreoathetosis, Spastic paraplegia, Paresthesia, ... OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysmetria, Cognitive impairment, Intention tremor, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:615386
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Motor stereotypy ORPHA:228402
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Scoliosis, Myopathy, Spinal rigidity, Seve... OMIM:618323
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Frequent falls, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... ORPHA:100984
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Scoliosis, Cerebral cortica... ORPHA:1188
Isaacs Syndrome
Fasciculations, Weight loss, Distal sensory impairment, Calf muscle hypertrophy ORPHA:84142
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Dystonia, Frequent falls, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spastic... OMIM:609195
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Lumbar hyperlordos... OMIM:255600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Hand muscle weakness, Lower ... ORPHA:320355
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... OMIM:618093
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Abnormality of the vertebral column, Frequent falls, Fle... ORPHA:101097
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb muscle weakness, Generalized amyotrophy, Spastic paraple... OMIM:601162
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Hypotonia, Impair... ORPHA:137898
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Frequent falls, Somatic sensory dysfunction, Intention tremor, Cerebellar vermis atrophy, General... ORPHA:466794
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Cognitive impairment, Shuffling gait, Bradykinesia, Rigidi... OMIM:615528
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic tetraplegia, Spastic paraparesis, Bradykinesia, Rigidity, Neurodegeneration, Di... OMIM:615643
Spinocerebellar Ataxia 12
Cerebellar atrophy, Action tremor, Parkinsonism, Dysmetria, Axial dystonia, Facial myokymia, Head... OMIM:604326
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Frequent falls, Skeletal myopathy, Sternocleidomastoid amyotrophy, W... ORPHA:2596
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Limb-girdle muscle atrophy, Cong... ORPHA:370980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Hand muscle atrophy, Foot dorsiflexor weakness, Frequent... ORPHA:435387
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis OMIM:608634
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Choreoathetosis, Generalized amyotrophy, Ankle flexion contracture, ... OMIM:617519
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Kyphosis, Impaired v... ORPHA:88644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Cerebellar atrophy, Frequent falls, Kyphosis, Congenital muscular dy... OMIM:606612
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Spasticity, Arthrogryposis multiplex congenita, Kyp... OMIM:212540
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Myopathy, Spheroid Body
Myopathy, Tremor, Proximal amyotrophy, Skeletal muscle atrophy OMIM:182920
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Impaired vibration sensation... ORPHA:444099
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Weight loss OMIM:275000
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Scoliosis, Paralysis OMIM:605285
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Generalized amyotrophy, Myoclonus, Scoliosis OMIM:616540
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity OMIM:616521
Bardet-Biedl Syndrome 18
Cognitive impairment, Obesity OMIM:615995
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, C... OMIM:256030
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Intention tremor, Ataxia, Neonatal hypotonia OMIM:302500
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, First dorsal interossei muscle atrophy, Abnormal motor nerve conduction v... ORPHA:139536
Spastic Paraplegia 53, Autosomal Recessive
Dystonia, Kyphosis, Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Clon... OMIM:614898
Allan-Herndon-Dudley Syndrome
Abnormal pyramidal sign, Dystonia, Flexion contracture, Choreoathetosis, Skeletal muscle atrophy,... ORPHA:59
Machado-Joseph Disease Type 1
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Spinocerebellar tract degeneration, Degeneration of the striatum, Dystonia, A... ORPHA:276241
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Flexion contracture, Hypertonia, Intention tremor, Ataxia, Cerebel... OMIM:616505
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Spinal muscular atrophy OMIM:182980
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Achilles tendon contracture, Incoordination, Cerebellar atrophy, Hand tremor, Dysmetria, Frequent... OMIM:302800
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Short neck, Ataxia, Tremor OMIM:618951
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Spastic Paraplegia 64, Autosomal Recessive
Spasticity, Spastic paraplegia, Skeletal muscle atrophy OMIM:615683
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Fasciculations, Hyperlordosis, Knee flexion contracture, Spasticity,... OMIM:615290
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Flexion contracture, Kyphosis, Increased variability in muscle fiber ... OMIM:300718
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Skeletal muscle atrophy, Ataxia, Abnormal autonomic nervous sy... ORPHA:97229
Myotonia Permanens
Hypertonia, Myotonia ORPHA:99735
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Somatic sensory dysfunction, Decreased amplitude of sensory action potenti... ORPHA:99950
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Dystonia, Muscular dystrophy, Oculomotor apraxia, Ataxia, Obesity, K... ORPHA:459033
Spinocerebellar Ataxia 2
Spinocerebellar tract degeneration, Action tremor, Dysmetria, Dysdiadochokinesis, Parkinsonism, I... OMIM:183090
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb amyotrophy, Progressive spastic paraplegia, Spastic gait, Impaired proprioception, Low... ORPHA:100993
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Spinocerebellar Ataxia 5
Incoordination, Dysmetria, Cognitive impairment, Impaired vibratory sensation, Intention tremor, ... OMIM:600224
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Foot dorsiflexor weakness, Proximal amyotrophy, Distal sensory impairment, Distal amyotrophy, Com... OMIM:616040
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Skeletal muscle atrophy, Oculogyric crisis, Scoliosis, Diffuse cere... ORPHA:330050
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Cognitive impairment, Ataxia, Unsteady gait, Dysphagia, Im... OMIM:616795
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Global brain atrophy, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsi... OMIM:612953
Spinocerebellar Ataxia Type 2
Abnormality of the spinocerebellar tracts, Kinetic tremor, Parkinsonism, Dystonia, Fasciculations... ORPHA:98756
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... ORPHA:48431
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Foot dorsiflexor weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Parap... OMIM:302802
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Scoliosis, Tongue fasciculat... OMIM:618811
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadochokinesis, Skeletal muscle atrophy, Spastic par... OMIM:614487
Corticobasal Syndrome
Parkinsonism, Somatic sensory dysfunction, Memory impairment, Dementia, Involuntary movements, Br... ORPHA:454887
Foxg1 Syndrome
Decreased body weight, Cognitive impairment, Choreoathetosis, Motor stereotypy, Stereotypical han... ORPHA:561854
Caribbean Parkinsonism
Action tremor, Dystonia, Parkinsonism, Orthostatic hypotension, Autonomic bladder dysfunction, Ap... ORPHA:97355
Dystonia 11, Myoclonic
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Machado-Joseph Disease
Cerebellar atrophy, Spinocerebellar tract degeneration, Dystonia, Parkinsonism, Impaired vibrator... OMIM:109150
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Cognitive impairment, Involuntary movements, Bradykinesia,... OMIM:612067
Leptin Receptor Deficiency
Polyphagia, Obesity, Abnormal eating behavior OMIM:614963
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Decreased n... OMIM:612674
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy OMIM:614915
Wiskott-Aldrich Syndrome, Autosomal Dominant