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
preweaning lethality, complete penetrance Tardbptm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal startle reflex Tardbptm1b(EUCOMM)Wtsi HET Early adult 3.17×10-09
embryonic lethality prior to organogenesis Tardbptm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased mean platelet volume Tardbptm1b(EUCOMM)Wtsi HET Early adult 6.95×10-29
decreased bone mineral density Tardbptm1b(EUCOMM)Wtsi HET Early adult 7.08×10-06
decreased blood urea nitrogen level Tardbptm1b(EUCOMM)Wtsi HET Early adult 2.67×10-05
decreased bone mineral content Tardbptm1b(EUCOMM)Wtsi HET Early adult 2.94×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
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)
Kidney N/A heterozygote 100% (2 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 100% (2 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)
Ovary N/A heterozygote 50% (1 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)
Skin N/A heterozygote 100% (2 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)
Testis N/A heterozygote 50% (1 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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
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%
oral cavity 0.0%
skin 0.0%
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 Whole Body Lateral Orientation

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Embryo LacZ

LacZ images wholemount

4 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
Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia, Neonatal hypotonia, Percussion myotonia, Myotonia of the face, Cold-... ORPHA:684
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... OMIM:160800
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Abnormal exteroceptive sensation,... OMIM:205100
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Ataxia, Spastic tetraparesis, Choreoathetos... ORPHA:225154
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,... ORPHA:65684
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontal lobe dementia, Inappropriate laughter, Disinhibition, Poly... OMIM:600274
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Abnormal pyramidal s... ORPHA:247604
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ... OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal ... OMIM:105550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Paramyotonia Congenita
Handgrip myotonia, Neonatal hypotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis OMIM:300857
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Frequent fal... OMIM:159950
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Impaired vibration sensation i... OMIM:612335
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb spasticity, Low... OMIM:614373
Amyotrophic Lateral Sclerosis 9
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Thomsen And Becker Disease
Myotonia ORPHA:614
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc... OMIM:608030
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Axial dystonia, Opisthotonus, Parkinsonism, ... ORPHA:300605
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Proximal amyotrophy,... OMIM:604484
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Frontotemporal dementia, Motor stereotypy OMIM:172700
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... DECIPHER:29
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Somatic sensory dysfunction,... ORPHA:101010
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Fasciculations, Ankle clonus, Thoracic scoliosis, Babinski s... OMIM:615681
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Truncal ataxia, U... OMIM:614063
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Clonus, Hypertonia, Imp... OMIM:615686
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... OMIM:611225
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia ORPHA:401805
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Tongue fasciculations, Distal amyotrophy, Congenital contracture, Hand... OMIM:607596
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Lower limb spasticity, Clo... ORPHA:401785
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Huntington Disease
Mental deterioration, Decreased body mass index, Memory impairment, Oral-pharyngeal dysphagia, Di... ORPHA:399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Babinski sig... OMIM:615658
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Prolonged central motor conduction time, Babinski si... OMIM:616282
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal... ORPHA:357043
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... ORPHA:320370
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Babinski sign, Hypertonia, Impaired vibration sens... OMIM:182960
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Scoliosis, Hypotonia, Decreased compound muscle action potential amplitude... OMIM:301830
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... OMIM:601472
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276244
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Scoliosis, Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Tremor, Distal amyotrophy, Distal sensory impairment OMIM:614369
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Spinal muscular atrop... OMIM:615048
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Vestibular nystagmus, Progressive extr... ORPHA:282166
Hypokalemic Periodic Paralysis, Type 1
Hypotonia, Myotonia OMIM:170400
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... ORPHA:275872
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Myotonia Fluctuans
Handgrip myotonia, Myotonia with warm-up phenomenon, Neonatal hypotonia, Myotonia of the lower li... ORPHA:99734
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Optic atro... ORPHA:2254
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Generalize... ORPHA:496756
Kleine-Levin Syndrome
Transient global amnesia, Polydipsia, Confusion, Abnormal eating behavior, Sweet craving, Polypha... ORPHA:33543
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensation, Somatic se... ORPHA:99947
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Skeletal muscle atrophy, Interphalangeal joint ... ORPHA:1145
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Cerebral atrophy, Generalized hy... OMIM:611890
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:171863
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized hypotonia, Foot dor... OMIM:617207
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... OMIM:620323
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Spasticity, Distal amyotrophy, Cerebral atrophy, Impaired vibratio... ORPHA:352641
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia OMIM:618406
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Caudate atrophy, Parkinsonism, Weight l... ORPHA:98934
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Neuronal loss in cen... OMIM:600795
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia OMIM:620195
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Cerebellar atro... OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness,... OMIM:614409
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, ... ORPHA:401820
Myotonia, Potassium-Aggravated
Handgrip myotonia, Myotonia, Percussion myotonia OMIM:608390
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Impaired pain sensation, Lower limb muscle weakness, P... OMIM:618511
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, At... ORPHA:101078
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:600361
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Frequent falls, Cerebellar vermis atrophy, Limb ataxia, Dista... ORPHA:1175
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Myoclonus, Tremor, Abnormal lower mot... ORPHA:2590
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Limb muscle weakness, Dysmetria, Tremor, Progressive... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Generalized hypotonia, Hypotonia, Limb muscle weakness, Rag... OMIM:500002
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Infantile axial hypotonia, Multip... ORPHA:521406
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Neonatal hypotonia, Camptodactyly of finger, Fai... OMIM:604320
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... OMIM:605285
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Foot dorsiflexor weakness... ORPHA:497764
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Impaired vibration sensation in the lower limbs, Limb a... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired... OMIM:615025
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... OMIM:313900
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... OMIM:128230
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Dysequilibrium Syndrome
Hypotonia, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ... ORPHA:2589
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Generalized amyotrophy, Spastic paraplegia, Cerebellar atrophy, Upp... OMIM:619686
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Generalized hypotonia, Tremor, Kyphoscoliosis, Ataxia OMIM:619099
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, ... OMIM:616286
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... ORPHA:100998
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Memory impairment, Disinhibition, Polyphagia, Repetitive compulsive behavior, Frontotemporal deme... OMIM:607485
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... OMIM:616688
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... OMIM:610357
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Limb dystonia, Clonus, Ky... ORPHA:319199
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ... ORPHA:171617
Childhood Disintegrative Disorder
Mental deterioration, Social and occupational deterioration, Motor deterioration, Dementia, Progr... ORPHA:168782
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ataxia OMIM:615911
Acetazolamide-Responsive Myotonia
Myotonia, Hypertonia ORPHA:99736
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Spinocerebellar Ataxia Type 38
Gait ataxia, Somatic sensory dysfunction, Tremor, Cerebellar atrophy ORPHA:423296
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Gait ataxia, Dysmetria, ... OMIM:616907
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Cerebral atrophy, Proximal spinal muscular atrophy, Abno... ORPHA:1320
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Skeletal muscle atrophy, Fasciculations ORPHA:85162
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Tibialis anterior muscle atrophy, ... OMIM:615035
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:100999
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Failure to thrive ORPHA:71526
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Broad-based gait ORPHA:171829
Segawa Syndrome, Autosomal Recessive
Myoclonus, Limb dystonia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Spinocerebellar Ataxia 37
Frequent falls, Cerebellar atrophy, Tremor, Ataxia OMIM:615945
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... ORPHA:275864
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... ORPHA:99014
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Babinski sign, Lower limb spasticity,... OMIM:613162
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Episodic Ataxia, Type 2
Dystonia, Myotonia OMIM:108500
Huntington Disease-Like 2
Cerebral cortical atrophy, Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Kyphosis, Foot dorsiflexor weakness, Distal sensory impairment, Optic disc pallor,... OMIM:617087
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Generalized hypotonia, Cerebellar vermis atrophy, Limb ataxia, Gait ... ORPHA:98763
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Leptin Receptor Deficiency
Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... OMIM:607684
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit... OMIM:183050
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Pontocerebellar atrophy,... OMIM:616053
Myopathy, X-Linked, With Excessive Autophagy
Myotonia, Neonatal hypotonia OMIM:310440
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Short attention span, Impulsivity OMIM:615538
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Failure to thrive in in... ORPHA:90103
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Park... OMIM:260300
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia, Scoliosis, Vocal cord paralysis ORPHA:640
Juvenile Huntington Disease
Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Gait a... ORPHA:248111
Cerebellar Ataxia, Cayman Type
Ataxia, Skeletal muscle atrophy, Cerebellar atrophy, Bradykinesia, Hypotonia, Gait ataxia, Hypomi... OMIM:601238
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Poor fine motor coo... ORPHA:99948
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Generalized hypotonia, Lumbar hyperlordosis, Hypotonia, Obesity, Lower limb spa... OMIM:616756
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction,... OMIM:500001
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Spinocerebellar tract degene... ORPHA:94124
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Porphyria, Acute Hepatic
Failure to thrive, Hypotonia, Paresthesia, Respiratory paralysis, Paralysis OMIM:612740
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Babin... ORPHA:100988
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Hypotonia, Tremor, Dysm... OMIM:617916
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Spinal mus... OMIM:615575
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia, Tremor ORPHA:209335
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Leukodystrophy, Hypomyelinating, 18
Spasticity, Progressive spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduc... OMIM:618404
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Hypotonia, Dysmetria, Hoffmann sign, Ax... OMIM:618438
Zebra Body Myopathy
Handgrip myotonia, Neonatal hypotonia, Torticollis ORPHA:97240
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ... OMIM:615924
Episodic Ataxia Type 1
Myotonia, Choreoathetosis, Hypertonia ORPHA:37612
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... OMIM:263570
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... ORPHA:496689
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Distal sensory impairment OMIM:613710
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Failure to thrive, Spi... OMIM:616081
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, C... OMIM:221770
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:618425
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb dysmetri... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Fasciculations, Hi... OMIM:615290
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Facial myokymia, Dysme... OMIM:604326
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Tr... ORPHA:101110
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hypotonia, Skeletal muscle atrophy, Ataxia OMIM:613402
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Spastic Paraplegia 3, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:182600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Clonus, Dystonia, Kyphos... OMIM:614898
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Dystonia, Scoliosis OMIM:618244
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Spastic tetraplegia, Cerebellar atrophy, Failure to thrive, Generalized hypotonia,... OMIM:618237
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudobulbar paralysis, Babinski sign, Lower ... ORPHA:101006
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Hypotonia, Decreased compound muscle action potential amplitude, Myopathy... OMIM:618323
Insulinoma
Transient global amnesia, Paresthesia, Increased body weight, Polyphagia, Abnormality of pain sen... ORPHA:97279
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal senso... OMIM:618387
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Spastic paraplegia, Skelet... OMIM:620538
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity... ORPHA:868
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Generalized hypotonia, Cerebellar vermis atrophy, Incoordination, Hypotonia, Limb ata... OMIM:213200
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Tremor, Diffuse ce... ORPHA:330050
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext... OMIM:615362
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus, Axial hypotonia OMIM:616921
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hypotonia,... OMIM:618184
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lowe... ORPHA:468661
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weaknes... OMIM:604360
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Frequent falls, Hemiballismus, Axial hypotonia ORPHA:494526
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Appendicular hypotonia, Facial myokymia, Ataxia, Kyphos... OMIM:620007
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials, Distal sensory im... OMIM:608673
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Isaacs Syndrome
Weight loss, Calf muscle hypertrophy, Distal sensory impairment, Fasciculations ORPHA:84142
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Cerebral cortical atrophy, Spastic paraplegia, Upper limb muscle we... OMIM:609195
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Optic atrophy, Hypotonia, Tremor, Rigidity, Cerebral corti... ORPHA:33445
Allan-Herndon-Dudley Syndrome
Spasticity, Spastic tetraplegia, Skeletal muscle atrophy, Neonatal hypotonia, Small for gestation... ORPHA:59
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia OMIM:615768
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Generalized hypotonia, Hypotonia, Multip... OMIM:128100
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakne... ORPHA:100986
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia, Writer's cramp ORPHA:324442
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Decreased compound muscle action potenti... OMIM:618279
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Neonatal hypotonia, Camptodactyly of finger, ... OMIM:158810
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Myotonia OMIM:255710
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Short neck, Ataxia, Axial hypotonia OMIM:618951
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Spastic ataxia, Abnormality of the dorsal column... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... OMIM:610743
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Spinal cord lesion, Degeneration of the lat... ORPHA:320355
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Hypotonia, Facial diplegia, Distal sensory impairment, Distal arthrogryposis, ... OMIM:616287
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Dystonia 11, Myoclonic
Hypotonia, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Generalized hypotonia, Hypotonia, Gait atax... OMIM:616505
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Hypotoni... ORPHA:1188
Myotonic Dystrophy 1
Hypotonia, Myotonia, Generalized hypotonia OMIM:160900
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Obesity, Polyphagia, Skin-picking, Impulsivity OMIM:615547
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Machado-Joseph Disease Type 1
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276241
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Hypotonia, Cachexia, Ab... ORPHA:363717
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276556
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Finger joint contracture, Chorea, Paresthesia, Intention tremor, Dysme... ORPHA:48431
Myosclerosis, Autosomal Recessive
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles... OMIM:255600
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy OMIM:615683
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell... ORPHA:466794
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Generalized hypotonia OMIM:264070
Temple Syndrome
Polyphagia, Obesity, Small for gestational age ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Neonatal hypotonia, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Calf... OMIM:606612
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Myotonia, Postural tremor, Lower limb spasticity, Head titubation, Intention ... OMIM:615491
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Large for gestational age, Small for gestational age, Agitation ORPHA:324575
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal m... OMIM:302500
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... ORPHA:139536
Myotonia Permanens
Myotonia, Hypertonia ORPHA:99735
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... ORPHA:435387
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Hypotonia, Myoclonus, Facial myokymia, Limb hypert... OMIM:606703
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Charcot-Marie-Tooth Disease Type 1A
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... ORPHA:101081
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, De... OMIM:617695
Graves Disease
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Hypotonia, Limb muscle weakness, Myoclonus, T... ORPHA:97229
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormality... ORPHA:98756
Caribbean Parkinsonism
Cerebral cortical atrophy, Bradykinesia, Autonomic bladder dysfunction, Myoclonus, Action tremor,... ORPHA:97355
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hypotonia, Proximal amyotrophy, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal... OMIM:617404
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Proximal muscle weakness i... ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction ... OMIM:614895
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Large for gestational age, Agitation ORPHA:276575
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:601098
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness,... OMIM:609285
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Hypotonia, Rigidity, Ataxia, Dystonia, Scoliosis OMIM:618239
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand tremor, Hand muscle weakness,... OMIM:302800
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:100993
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior bea... OMIM:230650
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Dystonia, Axial hypotonia OMIM:619651
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Failure to thrive, Tetraparesis, Appendi... OMIM:620546