| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Abnormal cerebellum morphology, Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clon... |
OMIM:615681 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, ... |
ORPHA:101010 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Abnormal cerebellum morphology, Tip-toe gait, Difficulty walking, Knee flexion contracture, Clonu... |
ORPHA:401785 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Quadriceps muscle atrophy, Inability to walk, Tip-toe gait, Proximal muscle weakness in lower lim... |
ORPHA:482601 |
| Miyoshi Myopathy |
|
Loss of ambulation, Triceps weakness, Tip-toe gait, Proximal muscle weakness in lower limbs, Calf... |
ORPHA:45448 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Distal amyot... |
OMIM:617018 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Somatic sensory dysfunction, Pr... |
OMIM:158600 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Somatic sensory dysfunction, Difficulty walking, Impaired distal vibration sensation, Distal lowe... |
OMIM:615025 |
| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Intrinsic hand muscle atrophy, Hand muscle weakness, Difficulty walking, Distal upper limb amyotr... |
OMIM:613376 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... |
ORPHA:219 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Thenar muscle weakness, Lower lim... |
OMIM:612335 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Foot dorsiflexor weakness,... |
ORPHA:497764 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle weakness, Hand muscle atrophy, Distal sensory impairment, Foot dorsiflexor weakness, ... |
OMIM:616280 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Cerebellar atrophy, P... |
OMIM:607458 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Distal sensory impairment, Foot dorsiflexor weakness, Gait disturbance, Spinal muscular atrophy, ... |
OMIM:614881 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Abnormal pyramidal sign, Babinski sign, Spastic paraplegia, Gait disturbance, Somatic sensory dys... |
ORPHA:357043 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Gait disturbance... |
OMIM:615043 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... |
ORPHA:401820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Distal sensory impairment, Distal amyotrophy, Thenar musc... |
OMIM:601472 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Unsteady gait, Distal sensory impairment, Spinal muscular atrophy, Distal amyotrophy |
OMIM:300489 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness... |
OMIM:610357 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... |
OMIM:615686 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Difficulty walking, Babinski sign, Skeletal muscle atrophy |
OMIM:616282 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Babinski sign, Lower limb amyotrophy |
OMIM:617046 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy |
OMIM:612539 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Spastic Paraplegia 2, X-Linked |
|
Abnormal cerebellum morphology, Loss of ambulation, Flexion contracture, Dysmetria, Babinski sign... |
OMIM:312920 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Distal lower limb amyotrophy |
ORPHA:73245 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:600794 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Gait disturbance, Steppage gait, Distal sensory impairment, Distal amyotrophy |
OMIM:616625 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Ankle clonus, Babinski sign, Lower limb muscle weakness, Distal amyotrophy, Distal sensory impair... |
OMIM:610250 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Lower limb muscle weakness, Gait ataxia, Lower ... |
ORPHA:488594 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia, Skeletal muscle atrophy |
OMIM:158500 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... |
ORPHA:320370 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... |
OMIM:253400 |
| Neuronopathy, Distal Hereditary Motor, Type I |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Distal amyotrophy, Upper limb ... |
OMIM:182960 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Impaired vibration sensation at ankles, Ataxia, Ankle clonus, Babinski sign, Lower limb muscle we... |
ORPHA:100985 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... |
OMIM:605820 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Babinski sign, Hand muscle atrophy, Lower limb amyotrophy, Spastic paraplegia... |
OMIM:615658 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Skeletal muscle atrophy, Cerebellar atrophy |
OMIM:613402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... |
OMIM:611302 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy |
OMIM:611105 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Tremo... |
OMIM:618387 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Foot dorsiflexor weakness, Distal amyotrophy, Spinal muscular atrophy, Progressive spastic parapa... |
ORPHA:496756 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Thenar muscle atrophy, Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Distal... |
OMIM:619112 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait |
ORPHA:401805 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Tremor, Difficulty w... |
OMIM:615048 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Inability to walk, Hypoplasia of the pons, Type 1 muscle fiber predominance, Tetraparesis... |
OMIM:618276 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... |
OMIM:182980 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Distal amyotrophy, Atrophy of the spinal cord, Gait disturbance, Progressi... |
OMIM:612020 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Steppage gait, Distal amyotrophy |
OMIM:604454 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Foot dorsiflexor weakness, Distal amyotrophy, Spinal muscular atrophy, Spasticity, Cerebe... |
OMIM:617207 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia, Skeletal muscle atrophy |
ORPHA:1766 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Mitochondrial Myopathy With Diabetes |
|
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... |
OMIM:500002 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... |
OMIM:619519 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Cerebral cortical atrophy, Flexion contracture, Spinal muscular atrophy, Cerebellar vermis hypopl... |
OMIM:616081 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Distal sensory impairment, Distal amyotrophy, Cerebellar atrophy, Stepp... |
OMIM:607250 |
| Tibial Muscular Dystrophy |
|
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... |
ORPHA:609 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturbance, Upper limb spast... |
OMIM:611225 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia |
OMIM:615889 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Distal amyotrophy, Difficulty walking, Progressive spastic paraplegia, Cerebellar ... |
ORPHA:468661 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... |
OMIM:616924 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... |
ORPHA:1175 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... |
OMIM:606183 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... |
OMIM:253550 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... |
ORPHA:603 |
| Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation |
ORPHA:2074 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... |
OMIM:613954 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... |
ORPHA:2589 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Tip-toe gait, EMG: myopathic abnormalit... |
ORPHA:370980 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramidal si... |
OMIM:618438 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... |
ORPHA:139536 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Skeletal muscle atrophy |
ORPHA:85162 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb muscle weakness, Spastic par... |
OMIM:619686 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Cerebral atrophy, Paralysis, Knee flexion contracture, Arthrogryposis multiplex ... |
OMIM:616286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
| Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski si... |
ORPHA:3115 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... |
ORPHA:99940 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... |
OMIM:615575 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Somatic s... |
OMIM:612577 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Atrophy of the spinal cord, Spastic paraplegia, Generalized limb muscle atrophy, G... |
ORPHA:139480 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Inability to walk, EMG: myopathic abnormalities, Increase... |
ORPHA:266 |
| Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Babinski sign, Abnormal pyramidal sign, Foot dorsiflexor weakness, Distal amyotrophy,... |
OMIM:600361 |
| Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Progressive cerebellar ataxia, Babinski sign, Difficulty walking, Spasticity, Unsteady ga... |
ORPHA:98 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakne... |
OMIM:302801 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Ataxia, Dysmetria, Babinski sign, Lower limb muscle weakness, Distal sensory impairment, Spastic ... |
OMIM:616907 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Loss of ambulation, Frontal cortical atrophy, Brain atrophy, Pelvic gi... |
OMIM:167320 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Upper limb muscle weakness, Distal sensory impairment, Distal amyotrophy |
OMIM:607677 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Cerebral cortical atrophy, Skeletal muscle atrophy, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1188 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokinesis, Increased intramyocellular... |
OMIM:614487 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... |
ORPHA:1878 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:607731 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Ataxia, Abnormal cerebellum morphology, Cerebral cortical atrophy, Dysmetria, Tip-toe gait, Babin... |
OMIM:609195 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal sensory impairment, Foot dorsiflexor weakness, Distal amyotrophy, Waddling gait, Proximal ... |
OMIM:616040 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells,... |
OMIM:607596 |
| Nemaline Myopathy 2 |
|
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... |
OMIM:256030 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Distal amyotrophy, ... |
OMIM:615643 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Myopathy And Diabetes Mellitus |
|
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Impaired vibratory sensation, Wea... |
ORPHA:2596 |
| Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Gait dist... |
OMIM:210000 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Abnormal cerebellum morphology, Upper limb spasticity, Flexion contracture, Dysmetria, Spastic pa... |
OMIM:275900 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Abnormal cerebellum morphology, Upper limb spasticity, Postural tremor, Impaired vibration sensat... |
OMIM:270800 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Intrinsic hand muscle atrophy, Hand muscle weakness, Inability to walk, Spastic paraparesis, Prox... |
ORPHA:101077 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Gait ataxia, Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Thenar muscle weakness, Lower lim... |
OMIM:270685 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Spasticity, Gait disturbance |
OMIM:615683 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Difficul... |
OMIM:609285 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Limb hypertonia, Lower limb amyotrophy, Cerebell... |
ORPHA:401815 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... |
ORPHA:352641 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weaknes... |
OMIM:619566 |
| Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Cerebellar atrophy,... |
ORPHA:98771 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Abnormal cerebellum morphology, Cerebral cortical atrophy, Impaired vibration sensation at ankles... |
ORPHA:101006 |
| Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Steppage gait, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy |
OMIM:607678 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Foot dorsiflexor weakness, Distal sensory impairment, Lower limb muscle weakness, Distal lower li... |
OMIM:613287 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotrophy, Lower limb... |
ORPHA:171863 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... |
OMIM:612937 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... |
OMIM:619903 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... |
OMIM:611067 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Abnormal cerebellum morphology, Limb ataxia, Impaired vibratory sensation, Ankle clonus, Babinski... |
ORPHA:100986 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... |
ORPHA:488650 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Intention tremor, Generalized limb musc... |
ORPHA:466794 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Hand muscle ... |
ORPHA:435387 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Intention tremor, Distal amyotrophy, Gait ataxia, Abnormal upper... |
OMIM:215470 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Flexion contracture, Dysmetria, Intention tremor, Ankle clonus, Babinsk... |
OMIM:615491 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Miyoshi Muscular Dystrophy 1 |
|
Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposits immunor... |
OMIM:254130 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations, Skeletal muscle atrophy |
OMIM:183050 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Cerebellar atrophy, Type 2 muscle fi... |
OMIM:619028 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy |
OMIM:611895 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Axonal degeneration, Proximal muscle weakness in low... |
OMIM:618138 |
| Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Impaired vibration sensation in the lower limbs, Distal sensory impairment, Distal amyotrophy |
ORPHA:639 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy, Waddling gait |
OMIM:617760 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Difficulty walking, Upper lim... |
OMIM:608323 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
| Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Skeletal muscle atrophy, Central nervous system degeneration |
ORPHA:868 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment |
OMIM:613310 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Hand muscle atrophy, Abnormality of the foot musculature, Babinski sign, Fo... |
ORPHA:100998 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Degen... |
OMIM:105400 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Tip-toe gait, Bab... |
OMIM:302800 |
| Fried Syndrome |
|
Gait disturbance, Spastic diplegia, Abnormal cerebellum morphology, Skeletal muscle atrophy |
ORPHA:85335 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... |
ORPHA:100999 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... |
OMIM:607317 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Involuntary movements, Tongue fasciculations, Skeletal muscle atrophy, ... |
OMIM:300816 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal lower limb muscle weakness, Spinal muscular atrophy, Interosseus muscle atrophy, Distal am... |
OMIM:607088 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity |
OMIM:614808 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Ba... |
ORPHA:100984 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Neuro... |
OMIM:617672 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Amyotrophy of ankle musculature, Impaired vibration sensation in the lower limbs, First dorsal in... |
ORPHA:171617 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadochokinesis, Cerebellar hypoplasia, Low... |
ORPHA:313772 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tip-toe gait, Babinski sign, Lower limb amyotrophy, Progressive spastic paraplegia, Knee flexion ... |
ORPHA:496689 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Inability to walk, Frontal cortical atrophy, Calf muscle... |
ORPHA:206559 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Spinocerebellar Ataxia 36 |
|
Hypertonia, Ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Fasciculations, Gait ataxia, Cere... |
OMIM:614153 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Calf muscle hypertrophy, Distal senso... |
ORPHA:101081 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Cerebellar atrophy, Skeletal muscl... |
OMIM:616479 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle weakness, Inability to walk, Axonal degeneration, Proximal muscle weakness in lower l... |
ORPHA:98856 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal sensory impairment, Distal amyotrophy |
OMIM:605589 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Distal amyotrophy, Frequent falls, Gait ataxia, Cerebellar atrophy, O... |
OMIM:604391 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Intrinsic hand muscle atrophy, Ataxia, Clumsiness, Babinski sign, Abnormal pyramidal ... |
OMIM:616688 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Loss of ambulation... |
ORPHA:101097 |
| Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... |
OMIM:258450 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
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Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Retinitis Pigmentosa 69 |
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Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalit... |
OMIM:606612 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
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Distal sensory impairment, Distal amyotrophy |
OMIM:608673 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Finnish Upper Limb-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... |
ORPHA:399086 |
| Distal Myotilinopathy |
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Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... |
ORPHA:98911 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Ataxia, Cerebellar vermis atrophy, Flexion contracture, Dysmetria, Dysdiadochokinesis, Babinski s... |
OMIM:616204 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Bothnia Retinal Dystrophy |
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Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
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Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... |
ORPHA:100988 |
| Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
| Neurodegeneration With Brain Iron Accumulation 5 |
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Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... |
OMIM:300894 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... |
OMIM:619065 |
| Myopathy, Distal, 3 |
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Clumsiness, Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimm... |
OMIM:610099 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
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Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... |
ORPHA:444099 |
| Spinocerebellar Ataxia Type 1 |
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Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Impaired proprioception, Progres... |
ORPHA:98755 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Tip-toe gait, Axonal degeneration, Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory i... |
OMIM:614436 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... |
OMIM:253700 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Cerebral atr... |
OMIM:105550 |
| Spinocerebellar Ataxia 28 |
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Limb ataxia, Babinski sign, Parkinsonism, Ragged-red muscle fibers, Somatic sensory dysfunction, ... |
OMIM:610246 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
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Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Dysmetria, Im... |
OMIM:270550 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
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Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... |
ORPHA:353 |
| Proximal Myopathy With Extrapyramidal Signs |
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Progressive extrapyramidal muscular rigidity, Ataxia, Resting tremor, Increased variability in mu... |
ORPHA:401768 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
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Involuntary movements, Tongue fasciculations, Increased variability in muscle fiber diameter, Ske... |
ORPHA:238329 |
| Spinocerebellar Ataxia Type 12 |
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Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... |
ORPHA:98762 |
| Adult-Onset Nemaline Myopathy |
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Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... |
ORPHA:171442 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... |
OMIM:604484 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Impaired vibration sensation at a... |
ORPHA:90103 |
| Retinitis Pigmentosa 11 |
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Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Degeneration of anterior horn cells, Progressive distal muscular atrophy, Myoclonus, Fasciculatio... |
OMIM:159950 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Tremor, Difficulty walking, Unstead... |
ORPHA:137898 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
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Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexo... |
OMIM:620011 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Skeletal muscle atrophy |
ORPHA:101078 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Inability to walk, Tremor, Diffuse cerebral atrophy, Difficulty walking, Cerebellar atrophy, Skel... |
ORPHA:330050 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
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Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakne... |
ORPHA:352479 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
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Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Ataxia, Loss of ambulation, Limb ataxia, Axonal degeneration, Truncal ataxia, Chorea, Distal amyo... |
OMIM:208920 |
| Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Loss of ambulation, Abnor... |
OMIM:608627 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Difficulty walking, Skeletal muscle atrophy, Paralysis, Distal sensory impairment |
OMIM:613710 |
| Myofibrillar Myopathy 11 |
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Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
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Hip contracture, Nonprogressive muscular atrophy, Spinal muscular atrophy, Distal amyotrophy, Pro... |
OMIM:600175 |
| Diaminopentanuria |
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Ataxia, Neurodegeneration, Spasticity |
OMIM:222350 |
| Bothnia Retinal Dystrophy |
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Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Tremor, Ataxia, Distal amyotrophy |
OMIM:619099 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
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Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Spinocerebellar Ataxia Type 36 |
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Loss of Purkinje cells in the cerebellar vermis, Ataxia, Limb ataxia, Dysmetria, Hand tremor, Int... |
ORPHA:276198 |
| Spinocerebellar Ataxia 2 |
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Ataxia, Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Spasticity, Unsteady gait, Pos... |
OMIM:183090 |
| Gerstmann-Straussler Disease |
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Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Lower limb muscle weakness, N... |
OMIM:137440 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Epilepsy, Progressive Myoclonic, 9 |
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Myoclonus, Gait ataxia, Generalized amyotrophy |
OMIM:616540 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
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Skeletal muscle atrophy, Tetraplegia |
OMIM:256720 |
| Spastic Paraplegia 11, Autosomal Recessive |
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Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... |
OMIM:604360 |
| Distal Nebulin Myopathy |
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Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... |
OMIM:616437 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
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Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
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Fasciculations, Skeletal muscle atrophy, Distal sensory impairment, Foot dorsiflexor weakness |
OMIM:137200 |
| Pleoconial Myopathy With Salt Craving |
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Paralysis, Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Broad-based gait, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limbs, Babinsk... |
OMIM:615290 |
| Usher Syndrome, Type Iv |
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Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
| Retinal Dystrophy And Obesity |
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Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Flexion contracture, Proximal muscle weakness in lower limbs, Distal amyotrophy, Impaired distal ... |
OMIM:607706 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Ataxia, Dysmetria, Intention tremor, Babinski sign, Distal sensory impairment, Distal amyotrophy,... |
OMIM:612674 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
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Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Ataxia, Skeletal muscle atrophy, Gait disturbance |
OMIM:618239 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Steppage gait, Distal sensory impairment, Distal amyotrophy |
OMIM:615376 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Skeletal muscle atrophy |
OMIM:612069 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Hypoesthesia, Positive Romberg sign, Distal sensory impairment, Distal amyotrophy, Gait a... |
OMIM:601098 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal vibration sensation, Impaired distal tactile sensation, Steppage gait, Distal amy... |
OMIM:610100 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... |
ORPHA:437572 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, EMG: myopathic a... |
ORPHA:171439 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Cerebral atrophy, Dysmetria, Weakness of facial musculature, Corpus callosum atrophy, Cho... |
OMIM:618088 |
