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
preweaning lethality, complete penetrance Clcc1tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal embryo turning Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Clcc1tm1b(KOMP)Mbp HOM   E12.5 0.00
increased mean corpuscular hemoglobin concentration Clcc1tm1b(KOMP)Mbp HET Early adult 2.83×10-11
abnormal embryo size Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00
embryonic growth retardation Clcc1tm1b(KOMP)Mbp HOM E9.5 0.00

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  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 587)
aorta 0.17% (1 of 592)
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
urinary bladder 0.0%
uterus 0.34% (2 of 589)
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 1.25% (6 of 479)
dorsal root ganglion 1.75% (1 of 57)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
fronto-nasal process 1.82% (1 of 55)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
nose 1.41% (1 of 71)
oral cavity 0.21% (1 of 470)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Adult LacZ

LacZ Images Section

36 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Gross Morphology Embryo E9.5

Images

6 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

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, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spastic Paraplegia 62, Autosomal Recessive
Abnormal cerebellum morphology, Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clon... OMIM:615681
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, ... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 62
Abnormal cerebellum morphology, Tip-toe gait, Difficulty walking, Knee flexion contracture, Clonu... ORPHA:401785
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Quadriceps muscle atrophy, Inability to walk, Tip-toe gait, Proximal muscle weakness in lower lim... ORPHA:482601
Miyoshi Myopathy
Loss of ambulation, Triceps weakness, Tip-toe gait, Proximal muscle weakness in lower limbs, Calf... ORPHA:45448
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Distal amyot... OMIM:617018
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Somatic sensory dysfunction, Difficulty walking, Impaired distal vibration sensation, Distal lowe... OMIM:615025
Neuronopathy, Distal Hereditary Motor, Type Iic
Intrinsic hand muscle atrophy, Hand muscle weakness, Difficulty walking, Distal upper limb amyotr... OMIM:613376
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Spastic Paraplegia 38, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Thenar muscle weakness, Lower lim... OMIM:612335
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Foot dorsiflexor weakness,... ORPHA:497764
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Distal sensory impairment, Foot dorsiflexor weakness, ... OMIM:616280
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Cerebellar atrophy, P... OMIM:607458
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Spinal muscular atrophy, ... OMIM:614881
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Amyotrophic Lateral Sclerosis Type 4
Abnormal pyramidal sign, Babinski sign, Spastic paraplegia, Gait disturbance, Somatic sensory dys... ORPHA:357043
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Spastic Paraplegia 43, Autosomal Recessive
Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Gait disturbance... OMIM:615043
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal sensory impairment, Distal amyotrophy, Thenar musc... OMIM:601472
Spinal Muscular Atrophy, Distal, X-Linked 3
Unsteady gait, Distal sensory impairment, Spinal muscular atrophy, Distal amyotrophy OMIM:300489
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness... OMIM:610357
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... OMIM:615686
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Difficulty walking, Babinski sign, Skeletal muscle atrophy OMIM:616282
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign, Lower limb amyotrophy OMIM:617046
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy OMIM:612539
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Spastic Paraplegia 2, X-Linked
Abnormal cerebellum morphology, Loss of ambulation, Flexion contracture, Dysmetria, Babinski sign... OMIM:312920
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Distal lower limb amyotrophy ORPHA:73245
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:600794
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Gait disturbance, Steppage gait, Distal sensory impairment, Distal amyotrophy OMIM:616625
Spastic Paraplegia 31, Autosomal Dominant
Ankle clonus, Babinski sign, Lower limb muscle weakness, Distal amyotrophy, Distal sensory impair... OMIM:610250
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Autosomal Recessive Spastic Paraplegia Type 76
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Lower limb muscle weakness, Gait ataxia, Lower ... ORPHA:488594
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... ORPHA:320370
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... OMIM:253400
Neuronopathy, Distal Hereditary Motor, Type I
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Distal amyotrophy, Upper limb ... OMIM:182960
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Autosomal Dominant Spastic Paraplegia Type 4
Impaired vibration sensation at ankles, Ataxia, Ankle clonus, Babinski sign, Lower limb muscle we... ORPHA:100985
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... OMIM:605820
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Babinski sign, Hand muscle atrophy, Lower limb amyotrophy, Spastic paraplegia... OMIM:615658
Microcephaly, Seizures, And Developmental Delay
Ataxia, Skeletal muscle atrophy, Cerebellar atrophy OMIM:613402
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... OMIM:611302
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy OMIM:611105
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Tremo... OMIM:618387
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Foot dorsiflexor weakness, Distal amyotrophy, Spinal muscular atrophy, Progressive spastic parapa... ORPHA:496756
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Neuronopathy, Distal Hereditary Motor, Type Vc
Thenar muscle atrophy, Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Distal... OMIM:619112
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Autosomal Recessive Spastic Paraplegia Type 63
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait ORPHA:401805
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture OMIM:614915
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Tremor, Difficulty w... OMIM:615048
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Hypoplasia of the pons, Type 1 muscle fiber predominance, Tetraparesis... OMIM:618276
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... OMIM:182980
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Distal amyotrophy, Atrophy of the spinal cord, Gait disturbance, Progressi... OMIM:612020
Welander Distal Myopathy
Rimmed vacuoles, Steppage gait, Distal amyotrophy OMIM:604454
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Foot dorsiflexor weakness, Distal amyotrophy, Spinal muscular atrophy, Spasticity, Cerebe... OMIM:617207
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Skeletal muscle atrophy ORPHA:1766
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... OMIM:619519
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Flexion contracture, Spinal muscular atrophy, Cerebellar vermis hypopl... OMIM:616081
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Cerebral atrophy, Distal sensory impairment, Distal amyotrophy, Cerebellar atrophy, Stepp... OMIM:607250
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturbance, Upper limb spast... OMIM:611225
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia OMIM:615889
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Distal amyotrophy, Difficulty walking, Progressive spastic paraplegia, Cerebellar ... ORPHA:468661
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... ORPHA:1175
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... OMIM:253550
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Gemignani Syndrome
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:2074
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... OMIM:613954
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Neuropathy, Hereditary Motor, With Myopathic Features
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... OMIM:619216
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... ORPHA:2589
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Tip-toe gait, EMG: myopathic abnormalit... ORPHA:370980
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramidal si... OMIM:618438
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia OMIM:617769
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... ORPHA:139536
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Skeletal muscle atrophy ORPHA:85162
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb muscle weakness, Spastic par... OMIM:619686
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Cerebral atrophy, Paralysis, Knee flexion contracture, Arthrogryposis multiplex ... OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski si... ORPHA:3115
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... ORPHA:99940
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... OMIM:615575
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Somatic s... OMIM:612577
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Atrophy of the spinal cord, Spastic paraplegia, Generalized limb muscle atrophy, G... ORPHA:139480
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... ORPHA:266
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Babinski sign, Abnormal pyramidal sign, Foot dorsiflexor weakness, Distal amyotrophy,... OMIM:600361
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait, Cerebellar atrophy OMIM:616410
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Progressive cerebellar ataxia, Babinski sign, Difficulty walking, Spasticity, Unsteady ga... ORPHA:98
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakne... OMIM:302801
Spastic Paraplegia 76, Autosomal Recessive
Ataxia, Dysmetria, Babinski sign, Lower limb muscle weakness, Distal sensory impairment, Spastic ... OMIM:616907
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... OMIM:167320
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Upper limb muscle weakness, Distal sensory impairment, Distal amyotrophy OMIM:607677
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Cerebral cortical atrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokinesis, Increased intramyocellular... OMIM:614487
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Congenital Glaucoma
Retinal detachment ORPHA:98976
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607731
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Abnormal cerebellum morphology, Cerebral cortical atrophy, Dysmetria, Tip-toe gait, Babin... OMIM:609195
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, Waddling gait, Proximal ... OMIM:616040
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... OMIM:607596
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Distal amyotrophy, ... OMIM:615643
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Impaired vibratory sensation, Wea... ORPHA:2596
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Gait dist... OMIM:210000
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Spastic Paraplegia 20, Autosomal Recessive
Abnormal cerebellum morphology, Upper limb spasticity, Flexion contracture, Dysmetria, Spastic pa... OMIM:275900
Spastic Paraplegia 5A, Autosomal Recessive
Abnormal cerebellum morphology, Upper limb spasticity, Postural tremor, Impaired vibration sensat... OMIM:270800
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
X-Linked Charcot-Marie-Tooth Disease Type 3
Intrinsic hand muscle atrophy, Hand muscle weakness, Inability to walk, Spastic paraparesis, Prox... ORPHA:101077
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:208100
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Thenar muscle weakness, Lower lim... OMIM:270685
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Spasticity, Gait disturbance OMIM:615683
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Difficul... OMIM:609285
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Limb hypertonia, Lower limb amyotrophy, Cerebell... ORPHA:401815
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... OMIM:619042
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... ORPHA:352641
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... OMIM:619566
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Cerebellar atrophy,... ORPHA:98771
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Autosomal Recessive Spastic Paraplegia Type 26
Abnormal cerebellum morphology, Cerebral cortical atrophy, Impaired vibration sensation at ankles... ORPHA:101006
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607678
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Foot dorsiflexor weakness, Distal sensory impairment, Lower limb muscle weakness, Distal lower li... OMIM:613287
Autosomal Dominant Spastic Paraplegia Type 42
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotrophy, Lower limb... ORPHA:171863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... OMIM:612937
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... OMIM:619903
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Autosomal Recessive Spastic Paraplegia Type 5A
Abnormal cerebellum morphology, Limb ataxia, Impaired vibratory sensation, Ankle clonus, Babinski... ORPHA:100986
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... ORPHA:488650
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Intention tremor, Generalized limb musc... ORPHA:466794
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Hand muscle ... ORPHA:435387
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... OMIM:215470
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Flexion contracture, Dysmetria, Intention tremor, Ankle clonus, Babinsk... OMIM:615491
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposits immunor... OMIM:254130
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations, Skeletal muscle atrophy OMIM:183050
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Cerebellar atrophy, Type 2 muscle fi... OMIM:619028
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... OMIM:618138
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Impaired vibration sensation in the lower limbs, Distal sensory impairment, Distal amyotrophy ORPHA:639
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Waddling gait OMIM:617760
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Difficulty walking, Upper lim... OMIM:608323
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Central nervous system degeneration ORPHA:868
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Abnormality of the foot musculature, Babinski sign, Fo... ORPHA:100998
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... OMIM:105400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Tip-toe gait, Bab... OMIM:302800
Fried Syndrome
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Skeletal muscle atrophy ORPHA:85335
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... ORPHA:100999
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... OMIM:607317
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Involuntary movements, Tongue fasciculations, Skeletal muscle atrophy, ... OMIM:300816
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Distal lower limb muscle weakness, Spinal muscular atrophy, Interosseus muscle atrophy, Distal am... OMIM:607088
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity OMIM:614808
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Ba... ORPHA:100984
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... OMIM:617672
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Autosomal Dominant Spastic Paraplegia Type 38
Amyotrophy of ankle musculature, Impaired vibration sensation in the lower limbs, First dorsal in... ORPHA:171617
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokinesis, Cerebellar hypoplasia, Low... ORPHA:313772
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tip-toe gait, Babinski sign, Lower limb amyotrophy, Progressive spastic paraplegia, Knee flexion ... ORPHA:496689
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... OMIM:616948
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Inability to walk, Frontal cortical atrophy, Calf muscle... ORPHA:206559
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Spinocerebellar Ataxia 36
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... OMIM:614153
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Calf muscle hypertrophy, Distal senso... ORPHA:101081
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ataxia, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Cerebellar atrophy, Skeletal muscl... OMIM:616479
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle weakness, Inability to walk, Axonal degeneration, Proximal muscle weakness in lower l... ORPHA:98856
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... ORPHA:397946
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal sensory impairment, Distal amyotrophy OMIM:605589
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Distal amyotrophy, Frequent falls, Gait ataxia, Cerebellar atrophy, O... OMIM:604391
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Intrinsic hand muscle atrophy, Ataxia, Clumsiness, Babinski sign, Abnormal pyramidal ... OMIM:616688
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Loss of ambulation... ORPHA:101097
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... OMIM:258450
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalit... OMIM:606612
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal sensory impairment, Distal amyotrophy OMIM:608673
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... ORPHA:399086
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... ORPHA:98911
Spinocerebellar Ataxia, Autosomal Recessive 18
Ataxia, Cerebellar vermis atrophy, Flexion contracture, Dysmetria, Dysdiadochokinesis, Babinski s... OMIM:616204
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... ORPHA:100988
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... OMIM:300894
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Myopathy, Distal, 3
Clumsiness, Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimm... OMIM:610099
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... ORPHA:444099
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... ORPHA:98755
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory i... OMIM:614436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... OMIM:253700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atr... OMIM:105550
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Parkinsonism, Ragged-red muscle fibers, Somatic sensory dysfunction, ... OMIM:610246
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Dysmetria, Im... OMIM:270550
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture OMIM:300717
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... ORPHA:353
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Ataxia, Resting tremor, Increased variability in mu... ORPHA:401768
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Tongue fasciculations, Increased variability in muscle fiber diameter, Ske... ORPHA:238329
Spinocerebellar Ataxia Type 12
Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... ORPHA:98762
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... OMIM:604484
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Impaired vibration sensation at a... ORPHA:90103
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Progressive distal muscular atrophy, Myoclonus, Fasciculatio... OMIM:159950
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Tremor, Difficulty walking, Unstead... ORPHA:137898
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexo... OMIM:620011
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Skeletal muscle atrophy ORPHA:101078
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Diffuse cerebral atrophy, Difficulty walking, Cerebellar atrophy, Skel... ORPHA:330050
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakne... ORPHA:352479
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Truncal ataxia, Chorea, Distal amyo... OMIM:208920
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Loss of ambulation, Abnor... OMIM:608627
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Skeletal muscle atrophy, Paralysis, Distal sensory impairment OMIM:613710
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal amyotrophy, Pro... OMIM:600175
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Distal amyotrophy OMIM:619099
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... ORPHA:276198
Spinocerebellar Ataxia 2
Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... OMIM:183090
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Lower limb muscle weakness, N... OMIM:137440
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia, Generalized amyotrophy OMIM:616540
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy, Tetraplegia OMIM:256720
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Fasciculations, Skeletal muscle atrophy, Distal sensory impairment, Foot dorsiflexor weakness OMIM:137200
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limbs, Babinsk... OMIM:615290
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Distal amyotrophy, Impaired distal ... OMIM:607706
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Dysmetria, Intention tremor, Babinski sign, Distal sensory impairment, Distal amyotrophy,... OMIM:612674
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... ORPHA:267
Mitochondrial Complex I Deficiency, Nuclear Type 17
Rigidity, Ataxia, Skeletal muscle atrophy, Gait disturbance OMIM:618239
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Somatic sensory dysfunction, Steppage gait, Distal sensory impairment, Distal amyotrophy OMIM:615376
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Skeletal muscle atrophy OMIM:612069
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Hypoesthesia, Positive Romberg sign, Distal sensory impairment, Distal amyotrophy, Gait a... OMIM:601098
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Impaired distal tactile sensation, Steppage gait, Distal amy... OMIM:610100
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, EMG: myopathic a... ORPHA:171439
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Cerebral atrophy, Dysmetria, Weakness of facial musculature, Corpus callosum atrophy, Cho... OMIM:618088