Gene Summary

Name:
chloride channel CLIC-like 1
Synonyms:
Mclc

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
embryonic growth retardation Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00
abnormal embryo turning Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00
abnormal embryo size Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Clcc1tm1b(KOMP)Mbp HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Clcc1tm1b(KOMP)Mbp HOM   E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 0.0% (0 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote Ambiguous
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Gross Morphology Embryo E9.5

Images

6 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Clcc1 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 Clcc1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913

The table below shows human diseases predicted to be associated to Clcc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Spastic Paraplegia 62, Autosomal Recessive
Difficulty walking, Lower limb spasticity, Abnormal cerebellum morphology, Spastic gait, Babinski... OMIM:615681
Autosomal Recessive Spastic Paraplegia Type 62
Difficulty walking, Lower limb spasticity, Abnormal cerebellum morphology, Spastic gait, Skeletal... ORPHA:401785
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Leg muscle stiffness, Ataxia, Somatic... ORPHA:101010
Miyoshi Myopathy
Tibialis atrophy, Proximal amyotrophy, Difficulty walking, Loss of ability to walk, Toe walking, ... ORPHA:45448
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Inability to walk, Quadriceps muscle weakness, Triceps weakness, Proximal muscle weakness in lowe... ORPHA:482601
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal amyotrophy, Cerebellar vermis atrophy, Distal se... OMIM:617018
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Facial palsy, G... ORPHA:219
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Distal... ORPHA:497764
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Thenar muscle weakness, Thenar muscle atrophy, Lo... OMIM:612335
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Thenar muscle weakness, Thenar muscle atrophy, Lo... OMIM:270685
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign... OMIM:607458
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Gait disturbance, Distal sensory impairment, Skeletal muscle atrophy, Fo... OMIM:614881
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Difficulty walking, Somatic sensory dysfunction, Skeletal muscle atrophy OMIM:615025
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Gait disturbance, Abnormal pyramidal sign, Somatic sensory dysfunction, Babin... ORPHA:357043
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Ataxia, Distal amyotrophy, Cerebellar vermis atrophy, Babinski sign, Fre... OMIM:618438
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Spastic Paraplegia 43, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Distal amyotrophy, Babinski sign, Distal sensory impairment... OMIM:615043
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Cerebral cortical atrophy, ... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, Thenar muscle atrophy, Distal amyotrophy, Upper limb amyotrophy, Distal s... OMIM:601472
Spinal Muscular Atrophy, Distal, X-Linked 3
Unsteady gait, Distal amyotrophy, Spinal muscular atrophy, Distal sensory impairment OMIM:300489
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Neuronopathy, Distal Hereditary Motor, Type Iic
Difficulty walking, Lower limb muscle weakness, Distal lower limb muscle weakness, Skeletal muscl... OMIM:613376
Spinal Muscular Atrophy, Scapuloperoneal
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy OMIM:271220
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Difficulty walking, Babinski sign, Skeletal muscle atrophy OMIM:616282
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ankle clonus, Ataxia, Lower limb spasticity, Cere... OMIM:610357
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Type 1 muscle fiber predominance, ... OMIM:618655
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Lower limb amyotrophy, Babinski sign OMIM:617046
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy OMIM:612539
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Polyglucosan Body Myopathy 2
Difficulty walking, Limb-girdle muscle weakness, Skeletal muscle atrophy OMIM:616199
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Distal lower limb amyotrophy, Cerebellar vermis hypoplasia, Dandy-Walker malformation ORPHA:73245
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Thenar muscle atrophy, Distal amyotrophy, Upper limb amyotrophy, First do... OMIM:600794
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Steppage gait, Gait disturbance, Distal amyotrophy, Distal sensory impairment OMIM:616625
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... ORPHA:602
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Autosomal Recessive Spastic Paraplegia Type 76
Gait ataxia, Limb ataxia, Lower limb muscle weakness, Ataxia, Ankle clonus, Lower limb spasticity... ORPHA:488594
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Spastic paraparesis, Flexio... OMIM:312920
Neuronopathy, Distal Hereditary Motor, Type I
Impaired vibration sensation at ankles, Hypertonia, Distal amyotrophy, Babinski sign, Upper limb ... OMIM:182960
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Impaired vibratory sensation, Spastic paraparesis, Difficulty walk... ORPHA:320370
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Impaired vibration sensation at ankles, Lower limb muscle weakness, Ankle c... ORPHA:100985
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Distal sensory impairment, Upper limb muscle weakness OMIM:608323
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Skeletal muscle atrophy, Spasticity OMIM:611105
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Scissor gait, Skeletal muscle atrophy OMIM:615686
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ankle clonus, Lower limb spasticity, Spastic gait... OMIM:610250
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal amyotrophy, Dysmetria, Distal sensory imp... OMIM:618387
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Spastic ataxia, Spastic tetraparesis, Cerebellar atrophy, Distal amyotro... ORPHA:496756
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Distal amyotrophy, Dysm... OMIM:611302
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Cerebellar atrophy, Skeletal muscle atrophy, T... OMIM:618276
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, F... OMIM:618848
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Difficulty walking, Thenar muscle atrophy, Distal lower limb amyotrophy, Distal ... OMIM:619112
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Autosomal Recessive Spastic Paraplegia Type 63
Hypertonia, Scissor gait, Skeletal muscle atrophy, Spasticity ORPHA:401805
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Spinal Muscular Atrophy, Jokela Type
Tremor, Spinal muscular atrophy, Difficulty walking, Distal sensory impairment, Skeletal muscle a... OMIM:615048
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Gait disturbance, Musc... ORPHA:178464
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Distal amyotrophy, Dist... OMIM:612020
Welander Distal Myopathy
Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy OMIM:614915
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Skeletal muscle atrophy ORPHA:1766
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Ataxia, Cerebellar atrophy, Distal amyotrophy, Spastic tetraplegia, Foot... OMIM:617207
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Spastic tetraparesis, Cerebellar vermis hypoplasia, Flexion contracture,... OMIM:616081
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Hand tremor, Proximal amyotrophy, Degeneration of anterior horn cells, T... OMIM:271150
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Wadd... OMIM:300695
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Gait disturbance, Lower limb muscle weakness, Lower li... OMIM:611225
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Global brain atrophy, Pain insensitivity, Ataxia, Distal amyotrophy, Cerebellar ve... ORPHA:94124
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Tongue fasciculations, Skeletal mus... OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Upper limb muscle weakness, Impaired vibratory sensation, Ragged-red muscle fibers, Lower limb mu... OMIM:616924
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Cerebellar atrophy, Distal amyotrophy, Distal lower limb muscle weakness, Bab... ORPHA:468661
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Distal amyotrophy, Distal sensory impairment, Stepp... OMIM:607250
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Degeneration of anterior horn cells, Tongue fasciculations, Skeletal mus... OMIM:253400
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Clumsiness, Intrinsic hand muscle atroph... ORPHA:603
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Cong... OMIM:607596
Gemignani Syndrome
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation ORPHA:2074
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Distal amyotrophy, Dys... OMIM:606183
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Gait disturbance, Skeletal muscle atrophy OMIM:616040
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Frequent falls, Paresthesia, Impaired tactile sen... OMIM:619216
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Cerebellar cyst, Difficulty walking, Congenita... ORPHA:370980
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy OMIM:611369
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Thenar muscle weakness, Thenar muscle atrophy, Unsteady gait, Dista... ORPHA:139536
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Paresthesia, Skeletal muscle atrophy ORPHA:85162
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Cerebral atrophy, Paralysis, Cerebellar atrophy, Skeletal mus... OMIM:616286
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations, Neuronal lo... OMIM:608030
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Roussy-Lévy Syndrome
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Intrinsic hand muscle atr... ORPHA:3115
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Increased intramyocellular lipid droplets, Spastic paraparesis, Spa... OMIM:614487
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Di... OMIM:615643
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired temperature sensation, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper l... ORPHA:99940
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Neuronopathy, Distal Hereditary Motor, Type Iid
Spinal muscular atrophy, Difficulty walking, Weakness of the intrinsic hand muscles, Lower limb m... OMIM:615575
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connectiv... ORPHA:266
Hereditary Motor And Sensory Neuropathy V
Difficulty walking, Hypertonia, Abnormal pyramidal sign, Distal amyotrophy, Distal sensory impair... OMIM:600361
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Atrophy of the spinal cord, Lower limb spasticity, Cerebellar at... ORPHA:139480
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Ceroid Lipofuscinosis, Neuronal, 6
Retinal degeneration OMIM:601780
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal amyotrophy, Distal sensory impairment, Steppage gait, Foot dorsiflexor weakness, Upper lim... OMIM:302801
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Spinal muscular atrophy OMIM:182980
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Impaired vibratory sensation, Cerebellar vermis hypoplasia, Abnormal pyramidal sign, ... ORPHA:98
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Difficulty walking, Lower limb muscle weakness, Ataxia, Lower li... OMIM:616907
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Distal amyotrophy, Distal sensory impairment, Upper limb muscle weakness OMIM:607677
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Cerebral cortical atrophy ORPHA:1188
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment OMIM:607731
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Congenital Glaucoma
Retinal detachment ORPHA:98976
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Rimmed vacuo... ORPHA:34516
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Waddling gait, Skeletal muscle ... OMIM:256030
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Myopathy And Diabetes Mellitus
Inability to walk, Impaired vibratory sensation, Weakness of orbicularis oculi muscle, Proximal a... ORPHA:2596
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Dystonia, Impaired vibration sensation at ankles, Gait disturbance, Cereb... ORPHA:101006
Myopathy, Spheroid Body
Tremor, Proximal amyotrophy, Waddling gait, Skeletal muscle atrophy, Myopathy, Broad-based gait OMIM:182920
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Camptodactyly... OMIM:275900
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Hand muscle weakness, Intrinsic hand muscle atrophy, Spastic parapares... ORPHA:101077
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602099
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Achilles t... OMIM:609200
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Ragged-re... ORPHA:276435
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Am... OMIM:205100
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Temporal cortical atrophy, Frontal co... OMIM:167320
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotrophy, Hip contracture,... OMIM:619042
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Gait ataxia, Congenital diaphragmatic hernia, Neurodegeneration ORPHA:438134
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Clumsiness, Intrinsic han... ORPHA:488650
Nemaline Myopathy 4
Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fiber predominance, Nema... OMIM:609285
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Cerebral atrophy, Progressive ... ORPHA:352641
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Skeletal muscle atrophy, Spasticity OMIM:615683
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Unsteady gait, Waddling gait, Rimmed vacuoles, Myopathy, Increase... OMIM:612937
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Upper limb muscle weakness OMIM:607678
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Cerebral atrophy, Ataxia, Neurodegeneration OMIM:610951
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Myoclonus, Babinsk... OMIM:619065
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Cerebellar hypoplasia, Lower limb spasticity, Spastic gait, Impaired vibratio... ORPHA:401815
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria,... ORPHA:98771
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Increased intramyocellular lipid droplets, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:612016
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Toe walking, Lower limb musc... OMIM:254130
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Fasciculations, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Truncal ataxia, Impaired vibratory sensation, Upper limb spasticity, Limb ata... ORPHA:100986
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... OMIM:615491
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Difficulty walking, Abnormal lower motor neuron morphology, Scapuloperon... OMIM:611067
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Lower limb hypertonia, Lower limb muscle weakne... ORPHA:171863
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Tremor, Gait ataxia, Ataxia, Distal amyotrophy, Myoclonus, Babinski sign, Fasciculation... OMIM:607317
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Poor fine motor coordination, Toe walking, Hand muscle atrophy, Impaired distal vibration sensati... ORPHA:435387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Difficulty walking, Muscle fiber inclusion bodies,... ORPHA:399058
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy OMIM:136550
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Skeletal muscle atrophy, Fasciculations, Rigidity, Spasticity OMIM:183050
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Gait ataxia, Paresthesia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Distal lowe... ORPHA:466794
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Amyotrophic Lateral Sclerosis 1
Pseudobulbar paralysis, Degeneration of the lateral corticospinal tracts, Degeneration of anterio... OMIM:105400
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment ORPHA:639
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Lower limb muscle weakness, Ataxia, Ankle clonus, Cere... OMIM:607565
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Hand muscle weakness, Hand muscle atrophy, Spastic gait, Distal amyotrophy, Babi... ORPHA:100998
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Impaired tandem gait, Myoclonus, Dysme... OMIM:619028
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... OMIM:604391
Central Core Disease Of Muscle
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Type 1 muscle ... OMIM:117000
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Waddling gait, Rimmed vacuoles, Skeletal muscle atrophy OMIM:617760
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Diaphragmatic paralysis, Skeletal muscle atrophy ORPHA:868
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand muscle weakness, Hand tremor, Difficulty walking, Paraparesis, Gait ... OMIM:302800
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Difficulty walking, Limb ataxia, Lower limb mus... ORPHA:100999
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Fried Syndrome
Gait disturbance, Abnormal cerebellum morphology, Spastic diplegia, Skeletal muscle atrophy ORPHA:85335
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Spinal muscular... OMIM:607088
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Toe walking, Proximal muscle weakness in upper limbs, Lower limb spasticity, Upper limb amyotroph... ORPHA:496689
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Thenar muscle weakness, Thenar muscle atrophy, ... ORPHA:171617
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Facial myokymia, Action tremor, Progressive cere... OMIM:604326
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Distal amyotrophy, Dys... OMIM:612674
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... OMIM:614153
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Gait disturbance, Myopathy, Muscle fiber splitting OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Centrally nuc... ORPHA:401768
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Charcot-Marie-Tooth Disease Type 1A
Sensory ataxia, Paresthesia, Gait disturbance, Distal sensory impairment, Spontaneous pain sensat... ORPHA:101081
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... OMIM:612319
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... ORPHA:100984
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Lower limb spasticity, Unste... OMIM:616948
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Distal sensory impairment OMIM:605589
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment, Skeletal muscle atrophy OMIM:613287
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Clumsiness, Intrinsic hand muscle atrophy, Difficulty walking, Weak... ORPHA:399086
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Distal Myotilinopathy
EMG: myopathic abnormalities, Difficulty walking, Loss of ability to walk in first decade, Abnorm... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Contractures of the joints of the lower limbs, Paralysis, Skeletal ... OMIM:613710
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Myopathy, Distal, 3
EMG: myopathic abnormalities, Clumsiness, Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Frontal cortical atrophy, Proximal amyotrophy, Difficulty wa... ORPHA:206559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Babinski sign, Skeletal muscl... OMIM:616479
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Flexion contracture, Oculomotor ... OMIM:616204
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal sensory impairment OMIM:608673
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Difficulty walking, Flexion contrac... ORPHA:171442
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Quadriceps muscle weakness, Pelvic girdle muscle weakness, ... OMIM:603689
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... ORPHA:100988
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scapular winging, Spinal muscular atrophy, Toe walking, Achilles tendon contracture, Waddling gai... OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Steppage gait, Toe walking, Distal amyotrophy, Impaired distal vibration sensation, Distal sensor... OMIM:614436
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrophy, Degener... OMIM:159950
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Difficulty walking, Lower limb spasticity, Spas... ORPHA:444099
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Ataxia, Skeletal muscle atrophy, Rigidity OMIM:618239
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Peroneal muscle atrophy, Spastic ataxia, Progressive gait ataxia, Ata... OMIM:270550
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Skeletal muscle atrophy, Tetraplegia, Fasciculations, Ragged-red muscle fi... OMIM:300816
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, S... ORPHA:330050
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Tremor, Truncal ataxia, Gait ataxia, Axonal degeneration, Limb ataxia, Oculomotor aprax... OMIM:208920
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Skeletal muscle atrophy, Increased variability in m... ORPHA:238329
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impair... OMIM:604484
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Skeletal muscle atrophy OMIM:618244
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Intrinsic hand muscle atrophy, Impaired vibration sensation at ankles, Distal lower ... ORPHA:90103
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Spastic diplegia, Head titubation, Toe walking, Skeletal mu... ORPHA:300605
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... ORPHA:137898
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakn... ORPHA:86812
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Type Viii
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal lower limb amyotrophy, Nonp... OMIM:600175
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Gait disturbance, Ataxia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:101078
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Tetraplegia, Skeletal muscle atrophy OMIM:256720
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Tongue fasciculations, Spinal muscular atrophy, Proximal... OMIM:253300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia OMIM:619099
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Clumsiness, Scapular winging, I... ORPHA:171439
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Lower limb muscle weakness, Thenar muscle atrophy, Distal lower limb amyotrop... ORPHA:352675
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, Difficulty walki... ORPHA:267
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, Nemaline bodies, Sternoclei... ORPHA:399103
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Stereotypy, Skeletal muscle atrophy, Babinski sign, Spasticity OMIM:612069
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Knee clonus, Lower limb mus... OMIM:604360
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Impaired vibratory sensation, Gait disturbance, Lower limb muscle weakness, Ataxia, A... ORPHA:88644
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Gait ataxia, Myoclonus OMIM:616540
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, EMG: myopathic abnormalities, Impaired distal proprioception, Gait ataxia,... OMIM:258450
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Skeletal muscle atrophy OMIM:618184
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Scapular winging, Abnormality of extrapyramidal motor function, Gait disturbanc... OMIM:614298
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy OMIM:616188
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Cerebellar atrophy, Limb hypertonia, Distal amyotrophy, Choreoathetosis OMIM:618247
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Impaired distal tactile se... OMIM:610100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Difficulty walking, Muscular dystrophy, Calf muscle hypert... OMIM:601287
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy OMIM:182815
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Distal sensory impairment, Upper limb muscle weakness OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Distal sensory impairment, Steppage gait, Limb muscle weakness, Foot dorsiflex... OMIM:118210
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Nemaline Myopathy 5
Tremor, Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Nemaline bodies,... OMIM:605355
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Hand muscle weakness, Lower limb spasticity, Sp... ORPHA:320355
Distal Anoctaminopathy
Difficulty walking, Rhabdomyolysis, Proximal muscle weakness in upper limbs, Distal amyotrophy, W... ORPHA:399096
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Limb dystonia, Babinski... OMIM:619054
Machado-Joseph Disease Type 1
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276238
Machado-Joseph Disease Type 2
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276241
Pontocerebellar Hypoplasia, Type 1B
Cerebellar cyst, Cerebral atrophy, Oculomotor apraxia, Flexion contracture, Cerebellar atrophy, S... OMIM:614678
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia, Distal lower limb amyotrophy, Impaired pain sensation, Distal u... ORPHA:101075
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Cerebellar hypoplasia, Cerebral cortical... OMIM:618291
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment ORPHA:90654
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness, Babinski sign OMIM:605726
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal tactile sensation OMIM:618400
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Trice... ORPHA:437572
Marinesco-Sjogren Syndrome
Gait ataxia, Limb ataxia, Flexion contracture, Centrally nucleated skeletal muscle fibers, Ataxia... OMIM:248800
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Falls, Clonus, Tongue fasciculations, Axonal degeneration... OMIM:618811
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Sensory ataxia, Vocal cord paresis, Difficulty walking, Distal sensory impairment, Skeletal muscl... OMIM:614895
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Impaired pain sensation, Truncal ataxia, Impaired vibratory sensation, Parest... OMIM:164400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Muscular dystrophy, Cerebellar hypoplasia, Hypoglycosylation of alpha-dystrogl... OMIM:615350
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Nemaline bodies, Distal amyotrophy, Facial palsy, Distal sensory impairment,... OMIM:607684
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Machado-Joseph Disease Type 3
Dystonia, Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abno... ORPHA:276244
Spastic Paraplegia 3, Autosomal Dominant
Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Lower limb muscle weakness,... OMIM:182600
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Distal amyotrophy, Distal sensory impairment, Fasciculations, Foot dorsiflexor wea... OMIM:606595
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Ragged-red muscle fibers, Cerebral atrophy, Gene... OMIM:609560
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, Paresthesia, Parkinsonism with favorab... ORPHA:254886
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Lower limb hypertonia, Lower limb muscle weakness, Somatic sensory dysfu... ORPHA:99013
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Type 1 muscle fiber predominance, Spastic gait, Congenital diaphragmatic ... ORPHA:972
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Flexion contracture, Distal amyotrophy, Distal sensory impairment, Babinski s... OMIM:609260
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Tibial Muscular Dystrophy, Tardive
Steppage gait, Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal amyotrophy OMIM:614751
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment OMIM:606483
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal amyotrophy, Distal sensory impairment, Steppage gait, Foot dorsiflexor weakne... OMIM:302802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Gait disturbance, Distal sensory impairment, Skeletal muscle atrophy ORPHA:99944
Myasthenic Syndrome, Congenital, 10