Gene Summary

Name:
zinc finger protein 106
Synonyms:
Cd-1,  sirm,  Sh3bp3,  H3a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased thermal nociceptive threshold Zfp106tm1a(KOMP)Wtsi HOM   Early adult 4.44×10-16
decreased body weight Zfp106tm1a(KOMP)Wtsi HOM   Early adult 1.76×10-09
abnormal gait Zfp106tm1a(KOMP)Wtsi HOM Early adult 1.06×10-07
abnormal external male genitalia morphology Zfp106tm1a(KOMP)Wtsi HOM   Early adult 6.52×10-06
increased circulating calcium level Zfp106tm1a(KOMP)Wtsi HET Early adult 6.05×10-08
abnormal posture Zfp106tm1a(KOMP)Wtsi HOM Early adult 6.85×10-12

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
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)
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%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
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)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 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%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

Legacy Phenotype Associated Images

View all 152 images

Human diseases caused by Zfp106 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp106 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Adamantinoma
Hypercalcemia ORPHA:55881
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Dystonia, L... OMIM:167320
Charcot-Marie-Tooth Disease Type 2B1
Proximal amyotrophy, Decreased motor nerve conduction velocity, Motor axonal neuropathy, Shoulder... ORPHA:98856
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Hand tremor, Gliosis, Axonal degeneration, Fasciculations,... OMIM:604484
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Onion bulb formation, Axonal degeneration, Paraparesis... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... ORPHA:225154
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... OMIM:159950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Axonal dege... OMIM:618138
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Optic atrophy, Dystonia, Peripheral axonal neuropathy, Inv... ORPHA:401768
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Pontocerebellar Hypoplasia, Type 1A
Congenital contracture, Fasciculations, Basal ganglia gliosis, Ataxia, Spinal muscular atrophy, D... OMIM:607596
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Babinski sign, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... OMIM:205100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Cranial nerve compression,... ORPHA:52430
Mitochondrial Dna Depletion Syndrome 18
Clonus, Tongue fasciculations, Weakness of facial musculature, Failure to thrive, Axonal degenera... OMIM:618811
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Ab... OMIM:619565
Spastic Paraplegia 62, Autosomal Recessive
Babinski sign, Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Tip-toe gait... OMIM:615681
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Lo... OMIM:607641
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... ORPHA:300605
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... OMIM:105550
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... OMIM:617158
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic later... OMIM:608030
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... OMIM:615157
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneration of... OMIM:271150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Autosomal Recessive Spastic Paraplegia Type 62
Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Knee flexion contracture, T... ORPHA:401785
Spinal Muscular Atrophy, Type Iii
Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Tongue fasciculations, Spinal muscular... OMIM:253400
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Spinocerebellar Ataxia 43
Rigidity, Tremor, Cerebellar vermis atrophy, Distal sensory impairment, Ataxia, Distal amyotrophy... OMIM:617018
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... OMIM:612335
Amyotrophic Lateral Sclerosis Type 4
Gait disturbance, Babinski sign, Skeletal muscle atrophy, Spastic paraplegia, Abnormal pyramidal ... ORPHA:357043
Monomelic Amyotrophy
Distal upper limb amyotrophy, Fasciculations, Tremor, Abnormality of peripheral nerve conduction,... ORPHA:65684
Spinal Muscular Atrophy, Distal, X-Linked 3
Distal sensory impairment, Abnormal peripheral nervous system morphology, Distal amyotrophy, Unst... OMIM:300489
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Skeletal muscle atrophy, Tremor, Ataxia, Flexion con... OMIM:611105
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Distal sensory impairme... OMIM:617087
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneratio... OMIM:253550
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Gait disturbance, Babinski sign, Knee flexion contracture, Distal sens... OMIM:615043
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Leg... ORPHA:101010
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... OMIM:602099
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyphosis, W... OMIM:255200
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... ORPHA:437572
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Gait disturbance, Skeletal muscle atrophy, Distal sensory impairment, Spinal muscular atrophy, Fo... OMIM:614881
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Babinski sign, Skeletal muscle atrophy, Upper limb spasticity, Lower limb spast... OMIM:611225
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... ORPHA:101077
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Triceps weakness, Impaired pain sensation, Kyphoscoliosis, Fascic... OMIM:619574
Neuronopathy, Distal Hereditary Motor, Type Iic
Skeletal muscle atrophy, Steppage gait, Distal lower limb muscle weakness, Lower limb muscle weak... OMIM:613376
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory impairment, Foot dorsiflexor... OMIM:616155
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal sensory impairment, Gait disturbance, Steppage gait, Distal amyotrophy OMIM:616625
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresthesia, Abnormality of the spinal cord, Quadriceps muscle weakness, Somatic sensory dysfunct... ORPHA:99947
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Nemaline Myopathy 2
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... OMIM:256030
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Pallor of dorsal ... OMIM:602433
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Postural tremor, Clumsiness, Babinski sign, Skeletal m... ORPHA:3115
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Tongue fascicula... OMIM:301830
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Distal sen... OMIM:601472
Autosomal Recessive Spastic Paraplegia Type 76
Babinski sign, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Ankle clonus, Scoliosis, L... ORPHA:488594
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Amyotrophic lateral ... ORPHA:600
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Difficulty walking, Somatic sensory dysfunction OMIM:615025
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Upper motor neuron dysfunction OMIM:612577
Neuronopathy, Distal Hereditary Motor, Type I
Impaired vibration sensation at ankles, Babinski sign, Hypertonia, Distal amyotrophy, Chronic axo... OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Onion bulb formation, Peripheral axonal... OMIM:609260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... OMIM:618655
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Babinski sign, Skeletal muscle atrophy, Difficulty walking OMIM:616282
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Spastic ataxia, Progressive spas... ORPHA:496756
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Calf muscle hypertrop... OMIM:615048
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Pseudobulbar paralysis... OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neur... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neur... OMIM:616437
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Babinski sign, Spastic gait, Knee flexion contracture, Impaired vibrat... ORPHA:320370
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Diaphragmatic paralysis, Small for gestational age, Limb muscle w... OMIM:604320
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Hypertonia, Spasticity, Decreased body weight ORPHA:401805
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Stereotypy, Spasticity OMIM:612069
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Babinski sign, Spastic gait, Skeletal muscle atrophy OMIM:612539
Spastic Ataxia 9, Autosomal Recessive
Babinski sign, Frequent falls, Cerebellar vermis atrophy, Ataxia, Spasticity, Distal amyotrophy, ... OMIM:618438
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Limb musc... OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Tremor, Distal... ORPHA:101075
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal sensory impairment, Upper limb muscle weakness, Axonal regeneration, Distal amyotrophy OMIM:608323
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Skeletal muscle atrophy, Scissor gait OMIM:615686
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Spastic hemiparesis, Abnormal pyramidal sign, Progressive extra... ORPHA:282166
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Autosomal Dominant Spastic Paraplegia Type 4
Impaired vibration sensation at ankles, Babinski sign, Lower limb spasticity, Leg muscle stiffnes... ORPHA:100985
Spastic Paraplegia 31, Autosomal Dominant
Babinski sign, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Distal sensory impai... OMIM:610250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Fasciculations OMIM:614808
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Rimmed ... OMIM:616924
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Gait disturbance, Skeletal muscle atrophy ORPHA:1766
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Paresthesia, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs,... ORPHA:435387
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... OMIM:608423
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, Flexion c... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Distal sensory impairment, Waddling gait, Decreased compound muscle action p... OMIM:616040
Machado-Joseph Disease Type 3
Clumsiness, Dystonia, Babinski sign, Peripheral axonal neuropathy, Skeletal muscle atrophy, Cereb... ORPHA:276244
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscl... ORPHA:171439
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Failure to thrive, Ataxia, Inability to wa... OMIM:618276
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... ORPHA:101097
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Truncal titubation, Ax... ORPHA:88628
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Distal amyotrophy... ORPHA:468661
Machado-Joseph Disease
Dystonia, Babinski sign, Cerebellar atrophy, Rigidity, Gliosis, Abnormality of extrapyramidal mot... OMIM:109150
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spa... OMIM:617207
Spastic Paraplegia 2, X-Linked
Optic atrophy, Degeneration of the lateral corticospinal tracts, Babinski sign, Skeletal muscle a... OMIM:312920
Polyglucosan Body Myopathy 2
Difficulty walking, Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Salih Myopathy
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... OMIM:611705
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... OMIM:255310
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... ORPHA:101081
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Difficulty walking OMIM:158580
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... ORPHA:266
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Weakness of facial musculature, Small for gestational age, Arthrogryposis multiplex congenita, Ky... OMIM:618484
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Abnormal motor nerve conduction v... ORPHA:139536
Distal Myopathy, Welander Type
Clumsiness, Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, ... ORPHA:603
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Spas... OMIM:614373
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Trophic limb changes, Axonal loss, Orthostatic hypotension, Gliosis, Dec... OMIM:118301
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... OMIM:609285
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... OMIM:255320
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Prog... OMIM:607458
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... ORPHA:247604
Welander Distal Myopathy
Steppage gait, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Peripheral axonal neuropathy, Skeletal muscle atrophy, Facial diplegi... OMIM:611890
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... OMIM:162100
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal sensory impairment, Axonal regeneration, Distal amyotrophy, Decreased numbe... OMIM:607731
Charcot-Marie-Tooth Disease Type 4A
Spinal deformities, Joint contracture of the hand, Quadriceps muscle weakness, Chronic axonal neu... ORPHA:99948
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal atrophy, Limb ... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, K... OMIM:615490
Gemignani Syndrome
Ataxia, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Impaired pain sensation ORPHA:2074
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Ragged-red muscle fibers, Frequent falls, Paroxysmal choreoathetosis, Difficulty w... OMIM:500003
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... ORPHA:353
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Inability to... ORPHA:596
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Distal amyotrophy, De... OMIM:607677
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Triceps weakness, Weakness of the intrinsic hand muscl... OMIM:615575
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Difficulty walking, Increased... ORPHA:399058
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness OMIM:619141
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Failure to thrive in infancy, Babinski sign, Increased intramyocellular lipid droplets,... OMIM:619065
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal atrophy, Axona... OMIM:605588
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Impaired distal proprioception, Rigidity, Steppage gait,... OMIM:258450
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Joint contracture of the hand, Waddling gait, Hyperlordosis, Abnormal... OMIM:611067
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Lower limb spasticity, Progress... ORPHA:401820
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Cerebellar atrophy, Skeletal muscle atrophy OMIM:613402
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment, Upper limb m... OMIM:302801
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... OMIM:615643
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Abnormal peripheral nervous system mo... OMIM:609524
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Onion bulb formation, Hypertrophic nerve changes, Kyph... OMIM:180800
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Impaired vibration sensation at ankles, Failure to thrive in infancy, Upper limb amyotrophy, Decr... ORPHA:90103
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, Paresthesia, Frequent falls, Motor axonal neuropathy, EM... OMIM:619216
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Tongue fasciculations, Fatty replacement of skeletal muscle,... OMIM:618823
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Cerebellar atrophy, Frequent falls, Facial diplegia, Achilles tendon contrac... ORPHA:370980
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations,... OMIM:607317
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Peripheral axonal neuropathy, Distal amyotrophy, Spastic ... ORPHA:352641
Amyotrophic Lateral Sclerosis 8
Postural tremor, Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic la... OMIM:608627
King-Denborough Syndrome
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Kyphoscoliosis, Muscle fibe... OMIM:619542
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Limb ataxia, Frequent falls, Dysmetria, Spastic dysarthri... ORPHA:1175
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Babinski sign, Hand muscle weakness, Spastic gait, Abnormality of the foot muscu... ORPHA:100998
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Abnormality of extrap... ORPHA:204
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Shoulder girdle muscle weakne... OMIM:606070
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... OMIM:619042
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... ORPHA:486815
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... ORPHA:101085
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial diplegia, Inability to... OMIM:618184
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Steppage gait, Tremor, Ataxia, Dista... OMIM:618387
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Clonus, Babinski sign, Impaired pain... ORPHA:139578
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Peripheral axonal neuropathy, Impaired distal tactile sensation, Decreased dist... OMIM:618400
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Skeletal muscle atrophy, Dysmetria, Lower limb spasticity, Sensory axonal neuropat... OMIM:616907
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:609311
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per... OMIM:614895
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... OMIM:255160
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... OMIM:610100
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign OMIM:311050
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Skeletal muscle atrophy, Cachexia, Flexion contracture ORPHA:157973
Merrf
Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia ORPHA:551
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Hyperlordosis, Calf muscle hypertrophy, ... OMIM:617760
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Neuronal loss in central nervou... OMIM:614498
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
Myopathy, Distal, 1
Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Facial palsy, Rimmed vacuole... OMIM:160500
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign, Lower limb amyotrophy OMIM:617046
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-based gait OMIM:182920
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Cerebellar atrophy, Pare... ORPHA:254886
Idiopathic Camptocormia
Dystonia, Spinal canal stenosis, Abnormal intervertebral disk morphology, Myositis, Amyotrophic l... ORPHA:1320
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... ORPHA:99014
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Inability to walk, ... ORPHA:330050
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Skeletal muscle atrophy, Sensory axonal neuropathy, Increased variability ... ORPHA:238329
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber d... OMIM:300718
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... OMIM:612937
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Spinal rigidity, Scoliosis OMIM:617066
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Myopathy, Abnormal auditory evoked potentials, Gait disturbance, Ataxia, Increased... OMIM:125250
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Babinski sign, Pelvic girdle muscle weakness, Peripheral axonal neuropathy, ... ORPHA:2596
Cerebrotendinous Xanthomatosis
Long-tract signs, Abnormal auditory evoked potentials, Global brain atrophy, Axonal degeneration,... ORPHA:909
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Frequent falls, Torticollis, Generalized amyotrophy, EMG: myopa... ORPHA:75840
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapular wi... OMIM:300695
Spastic Paraplegia Type 7
Optic atrophy, Babinski sign, Optic disc pallor, Ragged-red muscle fibers, Cerebellar atrophy, Sp... ORPHA:99013
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy, Nemaline bodies, Distal s... OMIM:607684
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Upper limb amyotrophy, M... ORPHA:99953
Amyotrophic Lateral Sclerosis
Paralysis, Skeletal muscle atrophy, Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral ... ORPHA:803
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Skeletal muscle atrophy,... OMIM:613287
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Limb muscle weakness, Frequent falls, Achilles tendon cont... OMIM:617258
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... ORPHA:171442
Bethlem Myopathy 2
Myopathy, Kyphosis, Increased variability in muscle fiber diameter, Flexion contracture, Scapular... OMIM:616471
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Gait disturbance, Myopathy, Back pain, Hyperlordosis, Scapular winging, Musc... OMIM:618129
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Generalized amyotrophy, Progressive gait ataxia, Intention tremor, Progressive cerebel... ORPHA:2589
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Thoracolumbar scoliosis, Facial palsy, Spin... OMIM:255600
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower l... OMIM:610357
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, S... OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Cerebellar atrophy, Vertebral fusion, Frequent falls, Macroglossia, Achilles... OMIM:606612
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Generalized limb muscle atrophy, Spastic ataxia, Cerebral atrophy, Loss of ambulation... ORPHA:137898
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Postural tremor, Upper limb amyotrophy, Kyphoscoliosis... ORPHA:99950
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Kyphoscoliosis, Tremor, Ataxia, Distal amyotrophy OMIM:619099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Cerebral cortical atrophy OMIM:615911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Steppage gait, Global brain atrophy, Spastic dysarthria, Impaired... ORPHA:94124
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Decreased nerve conduction velocity, Ataxia, Scoliosis, Cerebral cortica... ORPHA:1188
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Facial hypotonia, Astrocytosis, Inability to walk, Difficulty walking OMIM:611087
Behr Syndrome
Progressive spasticity, Optic atrophy, Gait disturbance, Cerebellar atrophy, Babinski sign, Dysme... OMIM:210000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis,... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Distal sensory impairme... OMIM:606595
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Skeletal muscle atrophy, Spasticity OMIM:615683
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Peripheral axonal neuropathy, Abnormality of the foot mu... ORPHA:169189
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Spasticity, Apraxia OMIM:615889
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Peripheral axonal neuropathy, Type 2 muscle fiber atrophy, Choreoathet... OMIM:617519
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, ... ORPHA:399086
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... ORPHA:275864
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait, Upper limb muscle weakness, Distal amyo... OMIM:607678
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Increased intramyocellular lipid droplets, Myoclonus, Tremor, Ataxia, Abnorma... OMIM:612016
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosi... OMIM:616505
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Onion bulb formation, Limb muscle weakness, Hypertroph... OMIM:118220
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations ORPHA:85162
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Neurodegeneration, Neuronal... OMIM:616239
Tay-Sachs Disease
Clumsiness, Global brain atrophy, Quadriceps muscle atrophy, Fasciculations, Incoordination, Lowe... ORPHA:845
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Distal upper limb amyotrophy, Joint contracture of the h... OMIM:258650
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ... OMIM:213200
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy, Skeletal muscle atrophy, Contractures of the joints of t... OMIM:613710
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Symmetric peripheral demyelination, Peripheral demyeli... ORPHA:206594
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100999
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Impaired proprioception, Cerebellar atrophy, Abnormality of somat... ORPHA:98755
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Skeletal muscle atr... OMIM:604360
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Failure to thrive, Abnormal morphology of musculature of pharynx, Gliosis, Lower l... ORPHA:280210
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... OMIM:254090
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... ORPHA:34516
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Limb... OMIM:614409
Riboflavin Transporter Deficiency
Cachexia, Optic disc pallor, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Limb mus... ORPHA:97229
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Onion bulb formation, Hypertrophic nerve changes, Step... OMIM:145900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Motor axonal neuropathy, Acute rhabdomyolysis, Abnormality of the cervica... ORPHA:48431
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Lower limb amyotrophy, S... ORPHA:171863
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Gait disturbance, Peripheral axonal neuropathy, Steppage gait, Decreased nerve conduction velocit... ORPHA:99939
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper... OMIM:302802
Adrenomyeloneuropathy
Abnormality of central somatosensory evoked potentials, Peripheral axonal degeneration, Babinski ... ORPHA:139399
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Tongue fasciculations, Upper limb spa... OMIM:617193
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Autosomal Dominant Spastic Paraplegia Type 38
First dorsal interossei muscle atrophy, Babinski sign, Degeneration of the lateral corticospinal ... ORPHA:171617
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... OMIM:619028
Hypermanganesemia With Dystonia 2
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... OMIM:617013
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Achilles tendon contracture, Knee flexion contracture, Fasciculations, Waddling ... OMIM:615290
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dystonia, Babinski sign, Neurodegeneration, ... OMIM:614298
Distal Myopathy, Tateyama Type
Clumsiness, Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnorm... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb muscle weakness, Loss of ability to walk, Muscular dystrophy, Diffi... OMIM:616812
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Sc... OMIM:616228
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Babinski sign, Upper limb amyotrophy, Kyphoscoliosis, Lower limb spasticity, Knee flexion contrac... ORPHA:496689
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Conge... ORPHA:258
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Hypertonia, Spasticity, Congenital contracture OMIM:225753
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, Axial dystonia, Decrease... OMIM:619026
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Skeletal muscle atrophy, Lower limb spasticity,... ORPHA:100988
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Failure to thrive, Spastic tetraparesis, Flexion contracture, Spinal mus... OMIM:616081
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Neuronal loss in central nervous system, Gliosis, Shuffling gait, Bradykinesia, Apraxia... OMIM:221820
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Babinski sign, Tremor, Diffuse cerebral atrophy, Spastic paraplegia OMIM:300660
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Steppage gait, Segmental peripheral demye... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Onion bulb formation, Limb muscle weakness, Hypertroph... OMIM:118200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Cerebellar atrophy, Gait ataxia, Neurodegeneration ORPHA:438134
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Rigidity, Bradykinesia, Decreased nerve conduction velocity, Fasciculati... OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Skeletal muscle atrophy, Rigidity, Ataxia, Scoliosis OMIM:618239
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Myoclonus, Ataxia, Spasticity OMIM:545000
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Dysmetria, Kyphoscoliosis,... OMIM:275900
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Spinal rigidity, Wadd... ORPHA:97244
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... OMIM:615491
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Gait disturbance, Distal sensory impairment, Distal amyotrop... OMIM:311070
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Frequent falls, Achilles tendon contracture, Scapular winging, Qua... OMIM:603689
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Abnormal peripheral action potential amplitude, Distal sensory impai... ORPHA:90117
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Impaired distal proprioception, Rigidity, Limb... OMIM:157640
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... OMIM:600175
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Peripheral axonal neuropathy, Kyphoscoliosis, Tremor, Distal sensory i... OMIM:616668
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Dystonia, Skeletal muscle atrophy, Joint contractures involving the joints of the ... ORPHA:457205
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Dis... OMIM:601382
Developmental And Epileptic Encephalopathy 14
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Spasticity, Cerebral corti... OMIM:614959
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Kyphoscoliosis, Gliosis, Arthrogryposis multiplex congenita, Knee flexion cont... OMIM:214150
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Autosomal Recessive Spastic Paraplegia Type 26
Impaired vibration sensation at ankles, Gait disturbance, Dystonia, Skeletal muscle atrophy, Babi... ORPHA:101006
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Rimmed vacuoles, Spinal rigidity, Flexion contracture, Scapular winging, Short neck OMIM:300696
Typical Nemaline Myopathy
Gait disturbance, Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Ky... ORPHA:171436
Myopathy, Myofibrillar, 6
Diaphragmatic paralysis, Axonal loss, Facial palsy, Generalized amyotrophy, EMG: myopathic abnorm... OMIM:612954
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Generalized limb muscle atrophy, Paresthesia, Frequent falls, Intention tremor, Ce... ORPHA:466794
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex... OMIM:616286
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Axonal degeneration/regeneration... OMIM:607706
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia, Generalized amyotrophy, Scoliosis OMIM:616540
Cap Myopathy
Abnormal muscle fiber morphology, Frequent falls, Generalized amyotrophy, Facial palsy, Lumbar hy... ORPHA:171881
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Steppage gait, Kyphoscoliosis, D... OMIM:604563
Nemaline Myopathy 3
Rigidity, Limb muscle weakness, Frequent falls, Slender build, Facial palsy, EMG: myopathic abnor... OMIM:161800
Oculopharyngodistal Myopathy
Weakness of facial musculature, Abnormality of facial musculature, Paraplegia, Abnormal morpholog... ORPHA:98897
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Axonal loss, Skeletal muscle atrophy, Kyphoscoliosis, Peripheral demyelination, Ataxia,... OMIM:616684
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Gait disturbance, Arm dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Babinski... ORPHA:88644
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Cerebellar atrophy, Distal amyotrophy, Steppage gait, Distal sensor... OMIM:607250
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100989
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... OMIM:254130
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Skeletal muscle atrophy, Peripheral demyelination, Decreased nerve conduction v... ORPHA:99944
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Skeletal muscle atrophy, Scoliosis OMIM:618244
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Fasciculations, Tetrapl... OMIM:300816
Gm1-Gangliosidosis, Type Iii
Dystonia, Skeletal muscle atrophy, Platyspondyly, Kyphosis, Slurred speech, Diffuse cerebral atro... OMIM:230650
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Dorsal column de... OMIM:164400
Scapuloperoneal Spinal Muscular Atrophy
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... OMIM:181405
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Babinsk... OMIM:270550
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Motor neuron atrophy, Generalized amyotrophy ORPHA:157954
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Decreased nerve conduction velocity, Flexion contracture, Centrally nu... OMIM:615368
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Small for gestational age, Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Ataxia, ... ORPHA:79243
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Frequent falls, Muscle fiber tubular inclusions, Facial palsy... ORPHA:353327
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Limb muscle w... OMIM:608340
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Spastic gait, Lower limb... OMIM:600363
Fried Syndrome
Gait disturbance, Spastic diplegia, Skeletal muscle atrophy, Scoliosis ORPHA:85335
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Frequent falls, Facial diplegia, EM... ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy OMIM:605589
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:256600
Mulibrey Nanism
Cachexia ORPHA:2576
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Skeletal muscle atrophy, Decreased sensory nerve conducti... OMIM:609033
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... OMIM:602771
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Astrocytosis, Degeneration of anterior horn cells OMIM:600333
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis OMIM:618323
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage gait, Distal sensory im... OMIM:118300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Joint contracture of the hand, Fasciculations, Atrophy of the spinal cor... ORPHA:466768
Hereditary Late-Onset Parkinson Disease
Dystonia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Frequent falls, Weight ... ORPHA:411602
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Onion bulb formation, Segmental peripheral demyelinati... OMIM:607734
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Huntington Disease-Like 2
Involuntary movements, Dystonia, Gait disturbance, Caudate atrophy, Chorea, Weight loss, Parkinso... ORPHA:98934
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Weight loss, Inability to walk, Generalized dystonia, Tip-toe gait, Attention d... ORPHA:216866
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Gliosis, Arthrogryposis multiplex congenita, Hyper... OMIM:615095
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome