Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Clcc1 MGI:2385186

Gene Summary

Name:

chloride channel CLIC-like 1

Synonyms:

Mclc

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal embryo turning	Clcc1^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
increased mean corpuscular hemoglobin concentration	Clcc1^{tm1b(KOMP)Mbp}	HET	Early adult	2.83×10^-11
embryonic growth retardation	Clcc1^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00
embryonic lethality prior to tooth bud stage	Clcc1^{tm1b(KOMP)Mbp}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Clcc1^{tm1b(KOMP)Mbp}	HOM	Early adult	0.00
abnormal embryo size	Clcc1^{tm1b(KOMP)Mbp}	HOM	E9.5	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	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	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Forepaw

8 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images

Adult LacZ

LacZ Images Section

36 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

X-ray

XRay Images Skull Lateral Orientation

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images

Gross Morphology Embryo E9.5

Images

2 Images

View images

Auditory Brain Stem Response

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

8 Images

View 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.

Human diseases associated with Clcc1 (1 diseases)
Human diseases predicted to be associated with Clcc1 (982 diseases)

The table below shows human diseases associated to Clcc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Retinitis Pigmentosa 32		Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913

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

Disease	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	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Spastic Paraplegia 62, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Clonus, Abnormal cerebellum morphology, Babinski ...	OMIM:615681
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 62	Lower limb spasticity, Skeletal muscle atrophy, Clonus, Abnormal cerebellum morphology, Knee flex...	ORPHA:401785
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Quadriceps ...	ORPHA:482601
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric...	ORPHA:45448
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,...	OMIM:617018
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4	Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper l...	OMIM:613376
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic...	OMIM:615025
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6	Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ...	ORPHA:219
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spastic Paraplegia 38, Autosomal Dominant	Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire...	OMIM:612335
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Hand muscle atrophy, Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Steppage...	OMIM:616280
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc...	OMIM:614881
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Spastic Paraplegia 77, Autosomal Recessive	Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ...	OMIM:617046
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal...	ORPHA:357043
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2T	Distal lower limb amyotrophy, Unsteady gait, Distal sensory impairment, Distal lower limb muscle ...	OMIM:617017
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, ...	OMIM:616282
Spinocerebellar Ataxia Type 43	Unsteady gait, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sen...	ORPHA:497764
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ...	OMIM:601472
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness	OMIM:618036
Neuronopathy, Distal Hereditary Motor, X-Linked	Distal amyotrophy, Unsteady gait, Spinal muscular atrophy, Distal sensory impairment	OMIM:300489
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Spinal Muscular Atrophy, Scapuloperoneal	Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy	OMIM:271220
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gai...	OMIM:615686
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia...	OMIM:610357
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Babinski sign, Spastic paraplegia, Knee flexion contracture, Distal se...	OMIM:615043
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:612539
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Charcot-Marie-Tooth Disease, Axonal, Type 2W	Distal amyotrophy, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:616625
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,...	OMIM:600794
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Spastic Paraplegia 31, Autosomal Dominant	Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory...	OMIM:610250
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Spastic Paraplegia 2, X-Linked	Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,...	OMIM:312920
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Distal lower limb amyotrophy, Cerebellar vermis hypoplasia, Dandy-Walker malformation	ORPHA:73245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy, Ataxia	OMIM:158500
Autosomal Recessive Spastic Paraplegia Type 76	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ...	ORPHA:488594
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1	Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Impaired vibration sens...	OMIM:182960
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Nonaka Myopathy	Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn...	OMIM:605820
Autosomal Dominant Spastic Paraplegia Type 4	Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne...	ORPHA:100985
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Babi...	OMIM:615658
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Difficulty walking, Frequent ...	OMIM:619112
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia	OMIM:613402
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy, Respiratory paralysis	OMIM:158650
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par...	OMIM:607641
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, T...	OMIM:618276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait	ORPHA:401805
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple...	OMIM:611225
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Rimmed vacuoles	OMIM:604454
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Claw hand deformity, Lower limb muscle weakness, Impaired pain sensation, Impaired distal vibrati...	OMIM:618511
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal amy...	OMIM:618387
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ...	OMIM:182980
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance	ORPHA:1766
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy...	OMIM:500002
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia, Spinal muscular atrophy, Spastic tetraplegia, Distal amyotrophy, Spas...	OMIM:617207
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Impaired distal vibration sensation, Distal sensory impairment, Wea...	OMIM:619519
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Babinski sign, Distal amyotrophy, Difficulty walking, Distal lower limb muscl...	ORPHA:468661
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign...	ORPHA:496689
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis	OMIM:158580
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Nemaline Myopathy 6	Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies	OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Unsteady gait, Cerebellar vermis atrophy, Babinski sign, Dysmetria,...	ORPHA:1175
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber...	OMIM:616924
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent...	ORPHA:2589
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Gemignani Syndrome	Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation	ORPHA:2074
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I...	OMIM:619216
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Spinal muscular atrophy, Spastic tetrapare...	OMIM:616081
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, Upper...	ORPHA:139536
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe...	OMIM:613954
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t...	OMIM:620068
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Paresthesia, Fasciculations	ORPHA:85162
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Hoffmann sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, B...	OMIM:618438
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te...	OMIM:619686
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb muscle weakness, Spinal muscular atrophy, Fasciculations, Difficulty walking, Weakness...	OMIM:615575
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Distal lower limb amyotrophy, Impaired temperature sensation, Impaired pain sensation, Upper limb...	ORPHA:99940
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo...	OMIM:608030
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Hereditary Motor And Sensory Neuropathy V	Babinski sign, Abnormal pyramidal sign, Spasticity, Distal sensory impairment, Distal amyotrophy,...	OMIM:600361
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor...	OMIM:616719
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra...	OMIM:607250
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un...	OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8	Calf muscle hypertrophy, Distal amyotrophy	OMIM:618135
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dor...	OMIM:302801
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ...	OMIM:612577
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Distal sensory impairment, Proximal amyotrophy, Distal amyotrophy, Foot dorsiflexo...	OMIM:616040
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di...	ORPHA:603
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w...	ORPHA:98
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic par...	OMIM:615157
Spastic Paraplegia 76, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet...	OMIM:616907
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration	OMIM:610951
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy	ORPHA:1188
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Cerebell...	ORPHA:401815
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Distal sensory impairment	OMIM:607677
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit...	ORPHA:101077
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp...	ORPHA:276435
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Gait disturbance	OMIM:615683
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:607731
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ...	OMIM:167320
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Impaired vibratory sensation, Inability to walk, Achilles tendon co...	ORPHA:2596
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia	ORPHA:438134
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness	OMIM:607678
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ...	OMIM:620323
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal sensory impairment, Lower limb musc...	OMIM:613287
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Impaired dis...	OMIM:615035
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle ...	OMIM:616479
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myo...	OMIM:614487
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia,...	ORPHA:98771
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abno...	ORPHA:309162
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T...	OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Facial palsy, Impaired pain sensation, Flexion contracture, Impaired distal ...	OMIM:607684
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Ps...	ORPHA:101006
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Impaired distal proprioception, Th...	OMIM:270685
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper...	OMIM:300695
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,...	ORPHA:435387
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N...	OMIM:615643
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp...	OMIM:215470
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross...	OMIM:619903
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a...	OMIM:611067
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakness, Abnormal cerebel...	ORPHA:100986
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Hand muscle weakness, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, D...	OMIM:608323
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ...	OMIM:612937
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of ...	OMIM:607596
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,...	OMIM:615491
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc...	OMIM:608358
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Claw hand deformity, Spinal muscular atrophy, Babinski sign, Distal amyotrophy, Foot dorsiflexor ...	OMIM:605726
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity	OMIM:611895
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,...	OMIM:608627
Autosomal Dominant Spastic Paraplegia Type 3	Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Rigidity, Babi...	ORPHA:100984
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap...	OMIM:613162
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired proprioception, Impaired v...	ORPHA:251282
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ...	ORPHA:276193
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment	ORPHA:639
Spinal Muscular Atrophy With Mental Retardation	Spinal muscular atrophy	OMIM:271109
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, P...	OMIM:302800
Triose Phosphate-Isomerase Deficiency	Central nervous system degeneration, Skeletal muscle atrophy, Diaphragmatic paralysis	ORPHA:868
Fried Syndrome	Abnormal cerebellum morphology, Gait disturbance, Spastic diplegia, Skeletal muscle atrophy	ORPHA:85335
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amy...	ORPHA:313772
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Generalized limb muscle atrophy, Spasticity, Gait ataxia, Progressiv...	ORPHA:466794
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Distal amyotrophy, Distal sensory impairment	OMIM:605589
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te...	OMIM:620389
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p...	OMIM:612319
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Postural tremor, Hand muscle weakness, Abnormality of the foot musculature, ...	ORPHA:100998
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Fasciculations, Proximal amyotrophy	OMIM:271200
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati...	OMIM:607565
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f...	OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor a...	OMIM:615217
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular...	OMIM:607088
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ...	OMIM:614153
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Sensory ataxia, Distal sensory impairment, Calf muscle hypertrophy, Gait...	ORPHA:101081
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ...	OMIM:619028
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal amyotrophy, Distal sensory impairment	OMIM:608673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con...	OMIM:606612
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Ataxia, Flexion contracture, Babinski sign, Dysmetria, Gait a...	OMIM:616204
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno...	OMIM:616688
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Sp...	ORPHA:100988
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski...	OMIM:610246
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk,...	ORPHA:330050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S...	OMIM:258450
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Distal Myotilinopathy	Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul...	ORPHA:98911
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
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Skeletal muscle atrophy, Vocal cord paresis, Broad-based gait, Intrinsic hand muscle atrophy, Gai...	OMIM:614895
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Degeneration of anterior horn cells, Ton...	ORPHA:2254
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:171863
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Babinski sign, Abnormal pyramidal sign, Progressive ...	ORPHA:513436
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal a...	OMIM:271245
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Loss of Purkinje cel...	OMIM:270550
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,...	ORPHA:98856
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:100999
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Axonal degeneration, Distal sensory impairment, Distal amyot...	OMIM:614436
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at...	OMIM:137440
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Loss of Purkinje cells in the cereb...	ORPHA:98755
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas...	OMIM:300816
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity	OMIM:615889
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, In...	OMIM:619065
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Impaired distal vibrat...	OMIM:616680
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Increased variability in muscle fiber diameter, T...	ORPHA:238329
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Waddling gait, Ataxia, Lower limb muscle weakness, Babinski sign, Distal sensory impairment, Step...	OMIM:617882
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Fatty replacement of skeletal muscle, Impaired distal vibration sensatio...	OMIM:618279
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Paralysis, Distal sensory impairment, Lower-limb joint contracture, Diff...	OMIM:613710
Myopathy, Distal, 3	Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J...	OMIM:610099
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ...	ORPHA:137898
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Axonal degeneration, Intrinsic hand muscle atrophy, Upper limb amyo...	ORPHA:90103
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance	ORPHA:101078
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Degeneration of th...	OMIM:604360
Cataract 50 With Or Without Glaucoma	Retinal detachment	OMIM:620253
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P...	ORPHA:101097
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax...	OMIM:208920
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy...	OMIM:608340
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ...	ORPHA:276198
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Distal amyotrophy, Steppage gait, Somatic sensory dysfunction, Distal sensory impairment	OMIM:615376
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,...	ORPHA:86812
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc...	OMIM:183090
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,...	ORPHA:353
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Diaphragmatic paralysis, Axonal degeneration, Plantar flexion contractur...	OMIM:620011
Giant Axonal Neuropathy 2, Autosomal Dominant	Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Impaired distal tactile se...	OMIM:610100
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Distal amyotrophy, Ataxia	OMIM:619099
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Achilles tendon contracture, Babinski sign, Dysmetria, Distal sensory...	OMIM:612674
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Upper limb amyotrophy, Distal sensory impairment, Difficulty walking, Lower limb amyotrophy, Foot...	OMIM:617087
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Proximal muscle weakness in upper limbs, Impaired pain sensation, Flexion contracture, Impaired d...	OMIM:607706
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Neuropathy, Congenital Hypomyelinating, 2	Skeletal muscle atrophy, Inability to walk, Sensory ataxia, Facial diplegia, Distal amyotrophy	OMIM:618184
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Lower limb spasticity, Broad-based gait, Spinal...	OMIM:615290
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber...	OMIM:300718
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Facial palsy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, ...	OMIM:118210
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:137200
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Ataxia, Hypoesthesia, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Positive Romberg...	OMIM:601098
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic...	OMIM:614678
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand...	ORPHA:101085
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Childhood-Onset Nemaline Myopathy	Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized...	ORPHA:171439
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Charcot-Marie-Tooth Disease Type 4A	Frequent falls, Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness,...	ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Thenar muscle atrophy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Difficulty wa...	OMIM:606483
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Hand tremor, Proximal amyotrophy, Degeneration of anterior horn cells, Tetra...	OMIM:604484
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Distal sensory impairment, Upper limb muscle weakness, Gait disturbance,...	OMIM:615284
Spastic Paraplegia 26, Autosomal Recessive	Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Babins...	OMIM:609195
Spastic Paraplegia With Neuropathy And Poikiloderma	Distal amyotrophy, Spastic paraplegia	OMIM:182815
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Flexion contracture, B...	OMIM:275900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Cerebral cortical atrophy	OMIM:617070
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop...	ORPHA:276241
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa...	OMIM:601287
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations...	OMIM:618811
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Flexion contracture, Babinski sign, Spasticity, Distal sensory impairment, Distal amyotro...	OMIM:609260
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy, Distal sensory impairment	OMIM:607791
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr...	OMIM:620285
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet...	OMIM:616127
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Impaired distal tactile sensation, Distal amyotrophy, Gait disturbance, Foot dorsiflexor weakness	OMIM:618400
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Limb muscle weakness, Steppage gait, Somatic sensory dysfunction	OMIM:620378
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M...	OMIM:253600
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls	OMIM:616540
Spinocerebellar Ataxia 1	Dilated fourth ventricle, Skeletal muscle atrophy, Impaired vibratory sensation, Impaired pain se...	OMIM:164400
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy	OMIM:255600
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop...	OMIM:118300
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Impaired vibratory sensation, Lower limb spasticity,...	ORPHA:88644
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis	ORPHA:480
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Joi...	OMIM:617481
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp...	ORPHA:496756
Machado-Joseph Disease Type 3	Cerebellar atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Dilated four...	ORPHA:276244
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy...	OMIM:616287
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fasciculations, Proximal...	OMIM:253300
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sig...	ORPHA:100996
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage g...	OMIM:302802
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonis...	OMIM:614298
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy	OMIM:203740
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poo...	OMIM:617695
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Somatic sensory dysfunction, Distal amyotrophy, Steppage gait, Fasc...	OMIM:600882
Rigid Spine Syndrome	Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con...	ORPHA:97244
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance, Distal sensory impairment	ORPHA:99944
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Hypoplasia of the pons, Spastic tetraplegia, Abnormality of extrapyramid...	OMIM:619527
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Lo...	ORPHA:320355
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Myoclonus, Intractable, Neonatal	Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, Dandy-Walker malfor...	OMIM:617235
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Flexion contracture, Babinski sign, Dysme...	OMIM:616505
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Tetraparesis,...	OMIM:616827
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Atrophy of the spi...	OMIM:602433
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Inability to walk, Upper limb muscle weakness, Distal amyotrophy, St...	ORPHA:99939
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Ba...	OMIM:616586
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ...	OMIM:617066
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dor...	OMIM:605588
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Limb hypertonia	OMIM:618247
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion...	ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Neurodegeneratio...	OMIM:616239
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased variability in muscle f...	OMIM:614399
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia...	ORPHA:1020
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Impaired pain sensation, Upper limb amyotrophy, Distal sensory impa...	ORPHA:99953
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy	ORPHA:1216
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ...	OMIM:616516
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic te...	OMIM:617710
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Myoclonus, Dysmetria	OMIM:618251
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,...	OMIM:109150
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi...	ORPHA:100993
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams...	OMIM:613205
Leukodystrophy, Hypomyelinating, 5	Lower limb muscle weakness, Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Ab...	OMIM:610532
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Madras Motor Neuron Disease	Facial palsy, Abnormal cerebellum morphology, Babinski sign, Limb fasciculations, Distal amyotrophy	ORPHA:137867
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet...	OMIM:606070
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Action tremor	OMIM:180800
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Impaired proprioception, Impaired vibration sensation in th...	ORPHA:352641
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Clonus, Abnormal cerebellum morphology, Babinski sign, Spastic par...	OMIM:270700
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Progressive cerebell...	ORPHA:1177
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ...	ORPHA:209335
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Clonus, Impaired pain sensation, Babinski sign, Spastic paraplegia, Distal amyotrophy, Gait distu...	ORPHA:139578
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Spastic dy...	ORPHA:95433
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Spasticity	OMIM:125250
Leber Optic Atrophy And Dystonia	Skeletal muscle atrophy, Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Charcot-Marie-Tooth Disease, Type 4B1	Distal amyotrophy, Facial palsy, Distal sensory impairment	OMIM:601382
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil...	ORPHA:254361
Amyotrophy, Monomelic	Upper limb muscle weakness, Cervical spinal cord atrophy, Interosseus muscle atrophy, Fasciculations	OMIM:602440
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Degenera...	OMIM:301830
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign,...	OMIM:620089
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal amyotrophy, Axonal degeneration, Distal sensory impairment	OMIM:606482
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal moto...	ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy	OMIM:618244
Myasthenic Syndrome, Congenital, 10	Waddling gait, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy	OMIM:254300
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Abnormal ...	ORPHA:70595
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy...	OMIM:617519
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n...	OMIM:611890
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral...	OMIM:256600
Neuropathy, Congenital, With Arthrogryposis Multiplex	Broad-based gait, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity	OMIM:162370
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting th...	ORPHA:95428
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Brady...	OMIM:610217
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Difficulty walking	OMIM:616684
Charcot-Marie-Tooth Disease Type 4D	Somatic sensory dysfunction, Postural tremor, Inability to walk, Unsteady gait, Upper limb amyotr...	ORPHA:99950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Slurred speech, Ataxia	OMIM:230650
Mitochondrial Complex I Deficiency, Nuclear Type 17	Rigidity, Skeletal muscle atrophy, Ataxia, Gait disturbance	OMIM:618239
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Postural tremor, Hypoplasia of the pon...	ORPHA:412057
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Spastic Paraplegia 16, X-Linked	Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap...	OMIM:300266
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements, Cerebellar h...	OMIM:617302
Lissencephaly 8	Retrocerebellar cyst, Skeletal muscle atrophy, Appendicular spasticity, Cerebellar hypoplasia	OMIM:617255
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S...	ORPHA:98673
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized...	OMIM:605013
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap...	ORPHA:2926
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var...	OMIM:619461
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal amyotrophy, Gait disturbance, Distal sensory impairment	OMIM:311070
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Cerebellar hypoplasia, Muscular ...	ORPHA:559
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty...	ORPHA:596
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Allan-Herndon-Dudley Syndrome	Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tetraplegia, Spast...	OMIM:300523
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski...	OMIM:617339
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo...	OMIM:615919
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia	ORPHA:31
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyo...	OMIM:615084
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:607736
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal pyramidal sign, Gait imbalance, Loss of ambulation, Weakness of...	ORPHA:329336
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle...	ORPHA:101076
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ge...	ORPHA:79279
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle hypertrophy, Skeletal muscle atrophy, Somatic sensory dysfunction	ORPHA:101082
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Waddling gait	ORPHA:98896
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ...	ORPHA:171881
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Alzheimer Disease 3	Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm...	OMIM:607822
Harel-Yoon Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Distal amyotrophy, Spasticity	OMIM:617183
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,...	OMIM:606002
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, ...	OMIM:619272
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, I...	ORPHA:502423
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo...	OMIM:617675
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Brain atrophy, Left ventricular hypertr...	OMIM:618228
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal amyotrophy, Distal sensory impairment	OMIM:607734
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Cerebral atrophy, Generaliz...	OMIM:618065
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
Adenylosuccinase Deficiency	Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, G...	OMIM:103050
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre...	OMIM:617228
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Distal...	OMIM:256850
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Gait disturbance, Myopathy	ORPHA:157973
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory...	OMIM:612954
Siddiqi Syndrome	Flexion contracture, Lower limb amyotrophy	OMIM:618635
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Ataxia, Facial palsy, Tremor, Myoclonus, Limb muscle weakness, Cerebral ...	ORPHA:97229
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Inability to walk, Skeletal muscle atrophy, Foot joint contracture, Cerebral atrophy	ORPHA:457205
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Unsteady gait, Distal sensory impairment	OMIM:300614
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa...	ORPHA:59
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk...	OMIM:300243
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Impaired distal proprioception, Hand tremor, Distal sensory impairment, ...	OMIM:162400
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, D...	ORPHA:3208
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflex...	OMIM:118220
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Abnormal cerebellum morpholog...	OMIM:211530
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Lower limb spasticity, Clonus, Atrophy of the spinal cord, Babinski sign, Spastic paraplegia, Dis...	OMIM:256840
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil...	OMIM:608907
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne...	OMIM:214150
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Clumsiness, Generalized amyotrophy, Tongue fasciculations, Limb muscle weak...	OMIM:614707
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Charcot-Marie-Tooth Disease, Type 4B2	Distal sensory impairment, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor...	OMIM:604563
Ataxia-Telangiectasia	Skeletal muscle atrophy, Abnormality of chromosome stability, Ataxia, Tremor, Gait disturbance, S...	ORPHA:100
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ti...	ORPHA:447760
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Diaphragmatic par...	OMIM:604320
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Impaired...	ORPHA:320406
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Increased variability in muscle fi...	OMIM:604377
Kennedy Disease	Skeletal muscle atrophy, Gait disturbance	ORPHA:481
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Broad-based gait, Ataxia, Impaired vibration sensation in the lower limb...	OMIM:609033
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:618393
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J...	OMIM:260600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotrophy, Falls, Pelvi...	OMIM:615156
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy	OMIM:614932
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Charcot-Marie-Tooth Disease, Type 4A	Distal amyotrophy, Inability to walk by childhood/adolescence, Axonal degeneration, Distal sensor...	OMIM:214400
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflex...	OMIM:118200
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Distal amyotrophy, Congenital foot contractures	ORPHA:3454
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Cerebral atrophy, Op...	OMIM:614969
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Distal sensory impairment	OMIM:607831
Microphthalmia, Isolated 8	Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm	OMIM:615113
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Richards-Rundle Syndrome	Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance	ORPHA:1399
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac...	ORPHA:521411
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia	OMIM:105300
Charcot-Marie-Tooth Disease, Type 4C	Facial palsy, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Distal ...	OMIM:601596
Tay-Sachs Disease	Cerebellar atrophy, Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower ...	ORPHA:845
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facia...	ORPHA:352447
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy	ORPHA:371
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Gait disturbance	ORPHA:2840
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertonia, Opisthotonus	OMIM:616896
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil...	ORPHA:171436
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres...	OMIM:200150
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,...	ORPHA:36386
Sialidosis Type 2	Tremor, Skeletal muscle atrophy, Flexion contracture, Ataxia	ORPHA:87876
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Abnormal cerebellum morpho...	ORPHA:101000
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait...	ORPHA:254930
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Congenital Myopathy 19	Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Gait disturbance	OMIM:618578
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy, Difficulty walking, Weakness of facia...	ORPHA:254875
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Gait ataxia, Spasticity, Lower limb amyotrophy, Spastic gait	ORPHA:496790
L1 Syndrome	Skeletal muscle atrophy, Spasticity, Gait disturbance, Hemiplegia/hemiparesis	ORPHA:275543
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ata...	OMIM:617193
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Distal s...	ORPHA:320375
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Impaired distal proprioception, Impaired distal vibration sensation, Unstead...	OMIM:601455
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Dysmetria	OMIM:615578
Schindler Disease, Type I	Spasticity, Generalized amyotrophy, Myoclonus	OMIM:609241
Becker Muscular Dystrophy	Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking	ORPHA:98895
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Frequent falls, Impaired pain sensation, Inability to walk, Impaired distal v...	ORPHA:99949
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Inability to walk, Babinski sign, Flexion contracture, Spastic para...	OMIM:609541
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni...	OMIM:253310
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter	OMIM:614096
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy, Impaired pain sensation	ORPHA:2047
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Axonal degeneration	OMIM:162100
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia, Flexion contr...	OMIM:618291
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures	ORPHA:2028
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif...	OMIM:255125
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Waddling gait, Knee flexion contracture	OMIM:606631
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, Hyperkinetic movemen...	OMIM:616420
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Abno...	ORPHA:1320
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglo...	OMIM:613150
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy	ORPHA:2013
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski...	OMIM:234200
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Cerebral ...	OMIM:612073
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration...	OMIM:271225
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig...	OMIM:616840
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach...	OMIM:620351
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy	ORPHA:477814
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture, Spastic paraplegia	OMIM:619026
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Joint contracture, Abnormal pyramidal sign, Spastic tetraplegia	OMIM:615419
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Oculomotor apraxia, Skeletal muscle atrophy	OMIM:619759
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr...	ORPHA:391428
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Poor coordination, Spastic tetraplegia, Spa...	OMIM:616878
Rett Syndrome	Skeletal muscle atrophy, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical...	OMIM:312750
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity, Cerebral atrop...	OMIM:601104
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Ataxia, Distal sensory impairment, Facial diplegia, Facial paralysis	OMIM:613559
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Difficulty walking, Brain a...	OMIM:164310
Krabbe Disease	Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti...	OMIM:245200
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy	OMIM:615980
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ...	ORPHA:100070
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Granu...	OMIM:609454
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Spastic tetraplegia, Chiari type I malformation, Neurodegeneration, Cerebellar ...	OMIM:618476
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Gait disturbance, Myopathy	ORPHA:85329
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction	OMIM:612079
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Fle...	OMIM:301072
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia	ORPHA:1933
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Spasticity, Temporal cortical atrophy	OMIM:618862
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tremor, Inability to walk, Flexion contracture, Limb tremor, Facial dipl...	OMIM:218000
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Cerebellar vermis hypoplasia, Muscular dystrophy,...	OMIM:616538
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas...	OMIM:612949
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Spastic gait, Progressive spastic paraplegia	ORPHA:2821
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus	ORPHA:812
Autosomal Recessive Spastic Paraplegia Type 11	Ataxia, Parkinsonism, Inability to walk, Paraparesis, Atrophy of the spinal cord, Generalized lim...	ORPHA:2822
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture	OMIM:615704
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Tetraplegia, Fasciculations, Progressive spa...	ORPHA:496641
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Neuraminidase Deficiency	Skeletal muscle atrophy, Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy	ORPHA:970
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Type 2 mu...	OMIM:615471
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Broad-based gait, Contractures of the large joints	OMIM:616716
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Difficulty walking, Spas...	ORPHA:481152
Melorheostosis	Skeletal muscle atrophy	ORPHA:2485
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Babinski sign, Cerebral atrophy, Hypertoni...	OMIM:615802
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity	ORPHA:85323
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Rigidity, Inability to walk, Athetosis, Spasticity	OMIM:257200
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy	ORPHA:42
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,...	OMIM:618321
Sandhoff Disease	Skeletal muscle atrophy, Exaggerated startle response, Ataxia, Impaired temperature sensation, Ma...	OMIM:268800
Norrie Disease	Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia	OMIM:310600
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,...	ORPHA:79244
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy	OMIM:618603
Niemann-Pick Disease, Type C1	Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner...	OMIM:257220
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital...	ORPHA:168572
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa...	ORPHA:70
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,...	ORPHA:1344
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hemiplegia/hemiparesis	ORPHA:156
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Leigh Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary mov...	ORPHA:506
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Cerebral atrophy	OMIM:245400
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myo...	ORPHA:98915
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps...	OMIM:255800
12Q14 Microdeletion Syndrome	Tremor, Skeletal muscle atrophy, Chiari malformation	ORPHA:94063
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficu...	ORPHA:778
Japanese Encephalitis	Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,...	ORPHA:79139
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Calf muscle hypertrop...	OMIM:253800
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Inability to walk, Paraparesis...	ORPHA:2912
Refsum Disease	Skeletal muscle atrophy, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis	ORPHA:773
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Aplasia/...	ORPHA:1358
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Apraxia, Neuronal loss in central nervous system, Cerebral...	OMIM:607485
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Walker-Warburg Syndrome	Skeletal muscle atrophy, Cerebellar hypoplasia, Muscular dystrophy, Aplasia/Hypoplasia involving ...	ORPHA:899
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ...	ORPHA:17
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration	OMIM:620210
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma...	ORPHA:367
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy	ORPHA:230839
Sézary Syndrome	Tremor, Skeletal muscle atrophy	ORPHA:3162
Renpenning Syndrome	Skeletal muscle atrophy	ORPHA:3242
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy	ORPHA:1486
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:232500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Steppage gait	ORPHA:168563
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy	OMIM:617143
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypertonia, Gait disturbance, Progressive spasticity, Aplasia/Hypoplasia...	ORPHA:192
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Cerebral atrophy	OMIM:614300
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques, Apraxia	OMIM:606889
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Ataxia, Babinski sign, Flexion contracture, Tetraparesis	OMIM:300232
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Flexion contracture	ORPHA:75496
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture	OMIM:619183
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Chediak-Higashi Syndrome	Ataxia, Tremor, Gait disturbance, Neurodegeneration, Foot dorsiflexor weakness	OMIM:214500
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Tremor, Unsteady gait, Cerebral atrophy, Myopathy, Spasticity	OMIM:615512
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Flexion contractu...	ORPHA:2671
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Babinski sign, Ton...	OMIM:252010
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor	OMIM:117300
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia	OMIM:601374
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ataxia, Knee flexion contracture	ORPHA:435638
Trisomy 17P	Macroglossia, Skeletal muscle atrophy, Flexion contracture, Hypertonia	ORPHA:261290
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Skeletal muscle atrophy	ORPHA:127
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy	OMIM:608779
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Abnormal medulla oblongata ...	ORPHA:297
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc...	ORPHA:26791
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis	OMIM:617022
Mucopolysaccharidosis, Type Ii	Macroglossia, Flexion contracture, Neurodegeneration	OMIM:309900
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Farber Disease	Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Brain atrophy, Spasticity	ORPHA:333
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Cerebral palsy, Opisthotonus	OMIM:210210
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Elbow flexion contracture	OMIM:616200
Mucopolysaccharidosis, Type Vii	Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti	OMIM:253220
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy	OMIM:219080
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis	ORPHA:251061
Bardet-Biedl Syndrome	Skeletal muscle atrophy	ORPHA:110
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Hurler Syndrome	Macroglossia, Flexion contracture, Neurodegeneration	OMIM:607014
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Spasticity, Ataxia, Cataplexy	OMIM:607625
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Hereditary Folate Malabsorption	Skeletal muscle atrophy	ORPHA:90045
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy	OMIM:614856
Donohue Syndrome	Skeletal muscle atrophy	OMIM:246200
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:619743
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Cockayne Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Ataxia, Action tremor, ...	ORPHA:191
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi...	OMIM:305620
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ...	ORPHA:2215
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis	OMIM:615934
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness	ORPHA:79240
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Diastasis recti, Inability to walk, Macroglossia, Global brain atrophy	ORPHA:488632
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2461
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Cerebral atrophy	OMIM:618252
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul...	ORPHA:2990
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Distal sensory impairment,...	OMIM:256810
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Hypertonia, Myoc...	ORPHA:284339
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dense calcifications in the cerebellar dentate nucleus, Unsteady gait, F...	ORPHA:90324
Recon Progeroid Syndrome	Skeletal muscle atrophy	OMIM:620370
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Isometric tremor, Broad-based gait, Clonus, Ataxia, Cerebral palsy, Head titubation,...	OMIM:619475
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt...	OMIM:601701
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture	ORPHA:39812
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy	OMIM:219090
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int...	OMIM:255995
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy	OMIM:131300
Werner Syndrome	Skeletal muscle atrophy	ORPHA:902
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Moebius Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni...	ORPHA:570
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop...	ORPHA:800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen	ORPHA:264580
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Abnormality of the tongue muscle, Inability to walk, Abnormality of mast...	ORPHA:273
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy	OMIM:615895
Leprosy	Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, S...	ORPHA:548
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:109
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy	ORPHA:1969
Nijmegen Breakage Syndrome	Neurodegeneration, Rhabdomyosarcoma	OMIM:251260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture	ORPHA:89842
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormality of chromosome stability, Rhabdomyosarcoma	ORPHA:647
Duane Retraction Syndrome	Blepharospasm, Skeletal muscle atrophy, Camptodactyly	ORPHA:233
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Poor coordination, Flexion contracture, Spastic diplegia, Cerebral atrop...	OMIM:309590
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy	ORPHA:1328
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ...	OMIM:259050
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy, Difficulty walking	ORPHA:536545
Immunodeficiency 31C	Skeletal muscle atrophy	OMIM:614162
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Somatic sensory dysfunction, Paresthesia	ORPHA:3260
Lysinuric Protein Intolerance	Skeletal muscle atrophy	OMIM:222700
Cystinosis, Nephropathic	Skeletal muscle atrophy, Myopathy, Cerebral atrophy	OMIM:219800
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,...	OMIM:256040
Pierson Syndrome	Skeletal muscle atrophy	OMIM:609049
Stickler Syndrome	Macroglossia, Skeletal muscle atrophy, Hemiplegia/hemiparesis	ORPHA:828
Marfan Syndrome	Skeletal muscle atrophy	ORPHA:558
Atypical Werner Syndrome	Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy	ORPHA:79474
Leprechaunism	Skeletal muscle atrophy	ORPHA:508

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clcc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clcc1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.	Cells (April 2020)	Clcc1^{tm1b(KOMP)Mbp}	32290105
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.	PLoS genetics (August 2018)	Clcc1^{tm1b(KOMP)Mbp}	PMC6133373

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Clcc1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Clcc1^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Clcc1 MGI:2385186

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Adult LacZ

Embryo LacZ

X-ray

X-ray

Gross Morphology Embryo E9.5

Auditory Brain Stem Response

Human diseases caused by Clcc1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data