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 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Spasticity, Tip-toe gait, Abnormal cerebellum morphology, Spastic gait, Babinski sign, Skeletal m... |
OMIM:615681 |
Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Knee flexion contracture, Tip-toe gait, Abnormal cerebellum morphology, Spastic gait, Skeletal mu... |
ORPHA:401785 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Somatic sensory dysfunction, Upper limb amyotrophy, Quadriceps muscle atrophy, Distal lower limb ... |
ORPHA:482601 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Miyoshi Myopathy |
|
Tibialis muscle weakness, Tip-toe gait, Distal lower limb amyotrophy, Calf muscle hypertrophy, Tr... |
ORPHA:45448 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal amyotrophy,... |
OMIM:617018 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal ... |
OMIM:158600 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Intrinsic hand muscle atrophy, Diffic... |
OMIM:613376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Somatic sensory dysfunction, Impaired distal vibration sensation, Skeletal muscle atrophy, Diffic... |
OMIM:615025 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Shuffling gait, Facial palsy, Proximal lower limb amyotrophy, Generalized limb muscle atrophy, Sc... |
ORPHA:219 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Thenar muscle weakness, Lower limb muscle weakne... |
OMIM:612335 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Gait disturbance, Foot dorsiflexor weakness, Difficulty walking, Steppage ga... |
OMIM:616280 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Spinal muscular atrophy, Distal lower limb amyotrophy, Gait disturbance, Foot dorsiflexor weaknes... |
OMIM:614881 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Skeletal muscle at... |
OMIM:607458 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait disturbance, Spastic paraplegia, Babin... |
ORPHA:357043 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Skeletal muscle atrophy, ... |
OMIM:616282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal lower limb muscle weakness, Unste... |
OMIM:617017 |
Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Foot dorsiflexor weakness, Distal lower limb... |
ORPHA:497764 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Cerebral cortical atrophy, Spastic gait, Generalized amyotrophy, ... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness, Steppage gait |
OMIM:618036 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus... |
OMIM:601472 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Distal amyotrophy, Unsteady gait, Distal sensory impairment, Spinal muscular atrophy |
OMIM:300489 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Gait disturbance, Babinski sign, Spastic paraplegia, Scis... |
OMIM:615686 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Lower limb muscle weakness, Ataxia, Spastic paraplegia, Babinski sign... |
OMIM:610357 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Knee flexion contracture, Spasticity, Gait disturbance, Spastic paraplegia, Babinski sign, Loss o... |
OMIM:615043 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Lower limb amyotrophy, Babinski sign |
OMIM:617046 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Babinski sign, Skeletal muscle atrophy, Spastic gait, Spastic paraplegia |
OMIM:612539 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Distal sensory impairment, Gait disturbance, Steppage gait |
OMIM:616625 |
Neuronopathy, Distal Hereditary Motor, Type Va |
|
Upper limb amyotrophy, Thenar muscle weakness, Thenar muscle atrophy, First dorsal interossei mus... |
OMIM:600794 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Skelet... |
OMIM:610250 |
Spastic Paraplegia 2, X-Linked |
|
Flexion contracture, Abnormal cerebellum morphology, Lower limb muscle weakness, Spastic gait, Sp... |
OMIM:312920 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Distal lower limb amyotrophy, Dandy-Walker malformation, Cerebellar vermis hypoplasia |
ORPHA:73245 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Gait ataxia, Ankle clonus, Lower limb muscle weakness, Limb ataxia, Ataxia, Babinski sign, Skelet... |
ORPHA:488594 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Neuronopathy, Distal Hereditary Motor, Type I |
|
Impaired vibration sensation at ankles, Babinski sign, Hypertonia, Distal amyotrophy, Upper limb ... |
OMIM:182960 |
Spinal Muscular Atrophy, Type Iii |
|
Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of anterior horn cells, Proxima... |
OMIM:253400 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, Gait disturbance, EMG: myopathic abnormalities, ... |
OMIM:605820 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Spasticity, Impaired vibration sensation at ankles, Ankle clonus, Lower limb muscle weakness, Ata... |
ORPHA:100985 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Knee flexion contracture, Poor fine motor coordination, Spasticity, Spastic gait, Babinski sign, ... |
ORPHA:320370 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Somatic sensory dysfunction, Hand muscle atrophy, Spastic paraplegia, Babinski sign, Loss of ambu... |
OMIM:615658 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Flexion contracture, Ataxia, Babinski sign, Tremor, Skeletal muscle atrophy |
OMIM:611105 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abnormal lower m... |
OMIM:607641 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Falls, Calf... |
OMIM:618848 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia |
ORPHA:401805 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Tremor, Fiber type grouping, Distal sensory impairment |
OMIM:614369 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Distal lower limb amyotrophy, Babinski sign, Thenar muscle atrophy, Difficulty walking, Distal lo... |
OMIM:619112 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Spinal Muscular Atrophy, Jokela Type |
|
Spinal muscular atrophy, Calf muscle hypertrophy, Tremor, Skeletal muscle atrophy, Difficulty wal... |
OMIM:615048 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Spasticity, Inability to walk, Tongue fasciculations, Ataxia, Type 1 muscle... |
OMIM:618276 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Loss of ambulation, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasc... |
OMIM:182980 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Distal sensory impairment, Ataxia, Dysmetria, Tremor, Foot dorsiflexor weakness, Ste... |
OMIM:618387 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles, Steppage gait |
OMIM:604454 |
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 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Skeletal muscle atrophy, Cerebral palsy |
ORPHA:1766 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Flexion contracture, Skeletal muscle atrophy, Multiple joint contractures |
OMIM:614915 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Gait disturbance, Ataxia, Babinski sign, Distal lower limb muscle... |
OMIM:612020 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Ataxia, EMG: myopathic abnormalities, Ragged-red muscle fib... |
OMIM:500002 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Spinal muscular atrophy, Spastic tetraplegia, Ataxia, Foot dorsiflexor weakness, Cere... |
OMIM:617207 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Wrist flexion contracture, Impaired distal vibration sensation, Wrist drop, Distal lower limb amy... |
OMIM:619519 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired vibration sensation in the lower limbs, Global brain atrophy, Cerebellar vermis atrophy,... |
ORPHA:94124 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Progressive spastic paraplegia, Babinski sign, Difficulty walking, Distal lower limb muscle weakn... |
ORPHA:468661 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Progressive spastic paraplegia, Upper limb amyotrophy, Tip-toe gait, Ba... |
ORPHA:496689 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Lower limb muscle weakness, Torticollis, Myoclo... |
OMIM:607317 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis, Distal amyotrophy |
OMIM:158580 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Cerebral atrophy, Cerebellar atrophy, Distal amyotrophy, Distal sensory im... |
OMIM:607250 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Upper limb spasticity, Gait disturbance, Babinski sign, Spastic parap... |
OMIM:611225 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Nemaline Myopathy 6 |
|
Gait disturbance, Nemaline bodies, Myopathy, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:609273 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Paresthesia, Centrally nucleated skeletal muscle ... |
OMIM:254110 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Distal lower limb amyotrophy, Dysdiadochokinesis, Spastic dysarthria, ... |
ORPHA:1175 |
Spinal Muscular Atrophy, Type Ii |
|
Spinal muscular atrophy, Degeneration of anterior horn cells, Hand tremor, Skeletal muscle atroph... |
OMIM:253550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Somatic sensory dysfuncti... |
OMIM:616924 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Generalized amyotrophy, Progressive gait ataxia, Myoclonus, Progressive cerebellar ataxia, Intent... |
ORPHA:2589 |
Gemignani Syndrome |
|
Impaired pain sensation, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia |
ORPHA:2074 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Paresthesia, Impaired tactile sensation, Tongue fasciculations, EMG: myopath... |
OMIM:619216 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Spasticity, Ankle clonus, Lower limb muscle weakn... |
OMIM:613954 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebral cortical atrophy, Spinal muscular atrophy, Spastic tetraparesis, Skeletal muscle atrophy... |
OMIM:616081 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Fatty replacement of skeletal muscle, Tip-toe gait, Cerebellar cyst, Congeni... |
ORPHA:370980 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Lower limb muscle weakness, Generalized amyotrophy, Torticollis, Upper limb spasticity, Impaired ... |
OMIM:619686 |
Spastic Ataxia 9, Autosomal Recessive |
|
Hoffmann sign, Spasticity, Cerebellar vermis atrophy, Impaired distal vibration sensation, Abnorm... |
OMIM:618438 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Thenar muscle weakness, Thenar muscle atrophy, Distal lower limb muscle weakness, First dorsal in... |
ORPHA:139536 |
Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal pyramidal sign, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic te... |
ORPHA:247604 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Abolished vibration sense, Distal lower limb amyotrophy, Lower limb muscle weakness, ... |
OMIM:620068 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Inability to walk, Ataxia, Cerebella... |
OMIM:617915 |
Lethal Congenital Contracture Syndrome 7 |
|
Knee flexion contracture, Distal arthrogryposis, Paralysis, Facial diplegia, Skeletal muscle atro... |
OMIM:616286 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Proxima... |
OMIM:608030 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Upper limb amyotrophy, Distal lower limb amyotrophy, Lower limb muscle weakness, Impaired pain se... |
ORPHA:99940 |
Spinocerebellar Ataxia 35 |
|
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa... |
OMIM:616719 |
Roussy-Lévy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Postural tremor, Clumsiness... |
ORPHA:3115 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Spinal muscular atrophy, Lower limb muscle weakness, Triceps weakness, Weakness of the intrinsic ... |
OMIM:615575 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Upper motor neuron dysfunction, Skeletal muscle atrophy, Amyotrophic... |
OMIM:612577 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Clumsiness, EMG: myopathic abnormalities, Distal upper ... |
ORPHA:603 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Gait ataxia, Spastic paraplegia, Babinski sign, Generalized limb muscle atrophy, Lower limb spast... |
ORPHA:139480 |
Hereditary Motor And Sensory Neuropathy V |
|
Spasticity, Abnormal pyramidal sign, Distal sensory impairment, Babinski sign, Foot dorsiflexor w... |
OMIM:600361 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Distal amyotrophy, Calf muscle hypertrophy |
OMIM:618135 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Inability t... |
ORPHA:266 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Babinski sign, Difficulty walking, Distal amyotrophy, Unsteady gait, Gait ataxia, Spasticity, Abn... |
ORPHA:98 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Gait ataxia, Lower limb muscle weakness, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Sk... |
OMIM:616907 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Distal s... |
OMIM:302801 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Hippocampal atrophy, Tetraparesis, Skeletal muscle atrophy, Amyotrophic lateral scler... |
OMIM:617892 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Babinski sign, Bradykinesia, Gait ataxia, Dysmetria, Limb fasciculatio... |
OMIM:615157 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Skeletal muscle atrophy, Ataxia |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal amyotrophy, Upper limb muscle weakness, Distal sensory impairment, Steppage gait |
OMIM:607677 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Limb hypertonia,... |
ORPHA:401815 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Foot dorsiflexor weakness, Proximal amyotrophy, Distal amyotrophy, Distal sensory impairment, Wad... |
OMIM:616040 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... |
ORPHA:90050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Distal sensory impairment, Foot dorsiflexor weakness, Steppage gait |
OMIM:607731 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Upper limb amyotrophy, Abnormal cerebellum morph... |
OMIM:270800 |
Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy |
OMIM:183020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Gait disturbance, Myopathy, Proximal muscle weakn... |
ORPHA:1878 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Brain atrophy, Generalized amyotrophy, Shoulder girdle muscle weakness, Gait disturbance, Pelvic ... |
OMIM:167320 |
Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Tip-toe gait, Weakness of orbicularis oculi muscle, Distal lower limb amyotrop... |
ORPHA:2596 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Congenital diaphragmatic hernia, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Sandhoff Disease, Juvenile Form |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturbance, Incoordi... |
ORPHA:309162 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Distal lower limb amyotrophy, Inability to walk, Gait disturbance, D... |
ORPHA:101077 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Myopathy, spheroid body |
|
Tremor, Myopathy, Skeletal muscle atrophy, Proximal amyotrophy, Broad-based gait, Waddling gait |
OMIM:182920 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Calf muscle pseudohypertrophy, Loss of ambulatio... |
OMIM:604286 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exudate |
OMIM:613310 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Gait disturbance, Spasticity, Skeletal muscle atrophy, Spastic paraplegia |
OMIM:615683 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia |
OMIM:610951 |
Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Inability to walk, Nemaline bodies, Frequent falls, ... |
OMIM:256030 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Abnormal pyramidal sign, Cerebral cortical atrophy, Lower limb muscle weakness, Gait disturbance,... |
OMIM:616479 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Impaired distal vibration sensation, Lower limb muscle weakness, Spastic paraplegia, Babinski sig... |
OMIM:615035 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic ataxia, Lower limb muscle weakness, Dysdiadochokinesis, Oculomotor apraxia, M... |
OMIM:614487 |
Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Somatic sensory dysfunction, Titubation, Dysmetria, Head tremor, Skeletal muscle atr... |
ORPHA:98771 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Clumsiness, Weakness of the intrinsic hand muscle... |
ORPHA:488650 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Impaired vibration sensation at ankles, Cerebral cortical atrophy, Abnormal cerebellum morphology... |
ORPHA:101006 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Thenar muscle weakness, Lower limb muscle weakne... |
OMIM:270685 |
Nemaline Myopathy 4 |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... |
OMIM:609285 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... |
OMIM:300695 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... |
OMIM:158810 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Spastic tetraplegia, Rigidity, Gait disturbance, Spastic paraparesis, Distal amyotr... |
OMIM:615643 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Steppage gait |
OMIM:607678 |
Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Skeletal muscle atrophy, Foot dorsiflex... |
OMIM:613287 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spasticity, Abnormal upper motor neuron morphology, Ataxia, Spinocerebellar atrophy,... |
OMIM:215470 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S... |
OMIM:611067 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dysdiadochokinesis, Dysmetria, Thenar muscle atrophy, Distal lower li... |
OMIM:619903 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Ankle clonus, Upper limb amyotrophy, Abnormal cerebellum morphology, Lower limb muscle weakness, ... |
ORPHA:100986 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Poor fine motor coordination, Abolished vibration sense, Difficulty walking, Frequent falls, Step... |
ORPHA:435387 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Low... |
OMIM:619028 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired distal vibration sensation, Flexion contracture, Lower limb muscle weakness, Hand muscle... |
OMIM:607684 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Limb-girdle muscular dystrophy, Unstead... |
OMIM:612937 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Skeletal muscle atrophy, Bradykinesia, Fasciculations |
OMIM:183050 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Lower limb muscle weakness, Muscul... |
OMIM:254130 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Spinal muscular atrophy, Degeneration of anterior horn cells... |
OMIM:159950 |
Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Spasticity, Amyotrophic lateral sclerosis |
OMIM:611895 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Generalized amyotrophy, Spastic ... |
ORPHA:251282 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Falls, Type 1 muscle fiber predominance, Generalized ... |
OMIM:608358 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Spastic gait, Babinski sign, Spastic paraplegia, Skeletal muscle atrophy, Lo... |
OMIM:613162 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Flexion contracture, Ankle clonus, Postura... |
OMIM:615491 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Ankle clonus, Tip-toe gait, Distal lower limb amyotrophy, Spastic gait, Rigidity, Gait disturbanc... |
ORPHA:100984 |
Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Impaired vibration sensation in the lower limbs, Distal amyotrophy, Distal sensory impairment |
ORPHA:639 |
Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Skeletal muscle atrophy,... |
OMIM:105400 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Difficulty walking, Distal amyotrophy, Upper limb muscle weakness, Distal sensory impairment, Han... |
OMIM:608323 |
Spinocerebellar Ataxia Type 35 |
|
Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Axonal degeneration, Distal lower limb amyotrophy, Achilles tendon contracture, Par... |
OMIM:302800 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Central nervous system degeneration, Skeletal muscle atrophy |
ORPHA:868 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Lower limb muscle weakness, Cerebellar hypoplasia, Abnormal mitochondria in muscle ti... |
ORPHA:313772 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Cerebellar vermis atrophy, Paresthesia, Gen... |
ORPHA:466794 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Cerebellar atr... |
OMIM:616948 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormality of the foot musculature, Spastic gait, Hand muscle atrophy, Postural tremor, Babinski... |
ORPHA:100998 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300717 |
Fried Syndrome |
|
Gait disturbance, Skeletal muscle atrophy, Abnormal cerebellum morphology, Spastic diplegia |
ORPHA:85335 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... |
OMIM:607088 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ankle clonus, Dysdiadochokinesis, Ataxia, Babinski sign, Spastic paraplegia, Spastic tetraparesis... |
OMIM:612319 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy |
OMIM:616291 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Spastic gait, Lower limb muscle we... |
OMIM:607565 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Spinal muscular atrophy, Babinski sign, Claw hand deformity, Foot dorsiflexor weakness, Distal am... |
OMIM:605726 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the ventral pons, Fasciculations, Spinal muscular atrophy, Cerebral cortical atroph... |
OMIM:607596 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Dysmetria, Frequent falls, Cerebellar atrophy, Distal amyotrophy, Dis... |
OMIM:615217 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Fasciculations |
OMIM:271200 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertrophy, Reduced muscle fiber ... |
ORPHA:206559 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... |
ORPHA:397946 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Ataxia, Babinski sign, Positive Romberg sign, Weakness of facial mus... |
OMIM:618088 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Abnormal cerebellum morphology, Ataxia, Babinski sign, Myopathy, Difficulty walking, ... |
OMIM:618242 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Spinocerebellar Ataxia 36 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Ataxia, Babinski sign, Tongue fascicula... |
OMIM:614153 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Distal lower limb amyotrophy,... |
OMIM:600175 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Paresthesia, Calf muscle hypertrophy, Gait disturbance, Skeletal muscle atrophy, ... |
ORPHA:101081 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Tip-toe gait, Calf muscle hypertrophy, Cerebellar cyst, Congenital muscular ... |
OMIM:606612 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Skeletal muscle atrophy, Lo... |
ORPHA:100988 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:605589 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Wrist drop, Clumsiness... |
OMIM:616688 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber atrophy, Truncal ataxia, Babinski sign, Steppage gait, Impaired distal proprioceptio... |
OMIM:258450 |
Spinocerebellar Ataxia 28 |
|
Gait ataxia, Somatic sensory dysfunction, Spasticity, Parkinsonism, Limb ataxia, Babinski sign, C... |
OMIM:610246 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Lower limb muscl... |
ORPHA:171863 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Pontocerebellar Hypoplasia Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Spasticity, Cerebral cortical atrophy, Degeneration of ante... |
ORPHA:2254 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:608673 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Inability to walk, Parkin... |
OMIM:617672 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Vocal cord paresis, Distal sensory impairment, Loss of ambulation, Skeletal muscle a... |
OMIM:614895 |
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 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Progressive spastic paraplegia, Abnormal pyramidal sign, Cerebral cortical atrophy, Progressive g... |
ORPHA:513436 |
Distal Myotilinopathy |
|
Loss of ability to walk in first decade, Multiple joint contractures, Abnormal muscle fiber myoti... |
ORPHA:98911 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Lower limb muscl... |
ORPHA:100999 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Skeletal muscle atrophy, Tetraplegia, Tongue fasciculations, Ragged-red mu... |
OMIM:300816 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebral cortical atrophy, Cerebellar cortical atrophy, Clumsiness, Atrophy/Degeneration affectin... |
OMIM:271245 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Peroneal muscle atrophy, Spasticity, Cerebellar ... |
OMIM:270550 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Neuronal loss in central nervous s... |
OMIM:105550 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Loss of Purkinje cells in the cerebellar vermis, Gait imbalance, Dysdiadochokinesis, Abno... |
ORPHA:98755 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Toe extensor amyotrophy, Peroneal muscle atrophy, Axonal degeneration, Inability to walk, Hand mu... |
ORPHA:98856 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Adult-Onset Nemaline Myopathy |
|
Poor fine motor coordination, Increased variability in muscle fiber diameter, Flexion contracture... |
ORPHA:171442 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Flexion contracture, Dysdiadochokinesis, Truncal ataxia, ... |
OMIM:616204 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Tip-toe gait, Axonal degeneration, Foot dorsiflexor weakness... |
OMIM:614436 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe... |
ORPHA:98762 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Difficulty walking, Distal sens... |
OMIM:613710 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Impaired distal vibration sensation, Abnormal pyramidal sign, Distal lower limb amyot... |
OMIM:616680 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Diffuse cerebral atrophy, Tremor, Skeletal muscle atrophy, Difficulty walking,... |
ORPHA:330050 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Apraxia, Hand tremor, Ataxia, Babinski sign, Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, Clumsiness, EMG: myopathic abnormalities, Step... |
OMIM:610099 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired distal vibration sensation, Fatty replacement of skeletal muscle, Hand tremor, Babinski ... |
OMIM:618279 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Spastic diplegia, Myoclonus, Increased intramyoce... |
OMIM:619065 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Ankle clonu... |
OMIM:604360 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, I... |
ORPHA:238329 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Lower limb muscle weakness, Parkinsonism, Truncal ataxia, Rigidity, Apra... |
OMIM:137440 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired distal proprioception, Loss of ambulation, Flexion contracture, Vocal cord paresis, Impa... |
ORPHA:101097 |
Distal Anoctaminopathy |
|
Peroneal muscle atrophy, Rhabdomyolysis, Calf muscle pseudohypertrophy, Difficulty walking, Dista... |
ORPHA:399096 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Loss of ambulation, Ske... |
ORPHA:352479 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Oc... |
OMIM:208920 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Truncal ataxia, Limb ataxia, Han... |
ORPHA:276198 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Flexion contracture, Truncal ataxia, Upper motor neuron dysfunction... |
ORPHA:137898 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Calf muscle hypertrophy, Achilles t... |
ORPHA:353 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Skeletal muscle atrophy |
ORPHA:101078 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Spinocerebellar Ataxia 2 |
|
Oculomotor apraxia, Babinski sign, Action tremor, Distal amyotrophy, Unsteady gait, Bradykinesia,... |
OMIM:183090 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Impaired vibration sensation at ankles, Amyotrophy of ankle musculature, Upper limb ... |
ORPHA:90103 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Axonal degeneration, Diaphragmati... |
OMIM:620011 |
Amyotrophic Lateral Sclerosis 8 |
|
Abnormal pyramidal sign, Postural tremor, Neuronal loss in central nervous system, Loss of ambula... |
OMIM:608627 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Spasticity, Achilles tendon contracture, Ataxia, Babinski sign, Dysmetria, Cerebellar atrophy, Di... |
OMIM:612674 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Frequent falls, Muscle fiber... |
OMIM:300718 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Spasticity, Flexion contracture, Cerebellar cortical atrophy, Centrally nucleated sk... |
OMIM:248800 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Distal sensory impairment, Skeletal muscle atrophy, Foot dorsiflexor weakness, Fasciculations |
OMIM:137200 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Fasciculations, Hip contracture, Spinal muscular atrophy, Lower limb mu... |
OMIM:615290 |
Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i... |
ORPHA:399103 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign |
OMIM:612069 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Tremor, Ataxia |
OMIM:619099 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Somatic sensory dysfunction, Distal sensory impairment, Steppage gait |
OMIM:615376 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Flexion contracture, Ankle clonus, Abnormal cerebellum mo... |
OMIM:275900 |
Childhood-Onset Nemaline Myopathy |
|
Poor fine motor coordination, Increased variability in muscle fiber diameter, Flexion contracture... |
ORPHA:171439 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuron morphology, Amyot... |
OMIM:602099 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal tactile sensation, Distal amyotrophy, Impaired distal vibration sensation, Steppa... |
OMIM:610100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyot... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyot... |
OMIM:616437 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Babinski sign, Difficulty walking, Hypertonia, Distal amyotrophy, Spasticity, Spastic diplegia, S... |
OMIM:205100 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Gait ataxia, Paresthesia, Ataxia, Positive Romberg sign, Hypoesthesia, Distal amyotrophy, Distal ... |
OMIM:601098 |
Muscular Dystrophy, Congenital, 1B |
|
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
Coats Disease |
|
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology |
ORPHA:190 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Thenar muscle atrophy, Steppage gait, Foot dorsiflexor weakness, Difficulty walking, Distal amyot... |
OMIM:606483 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Shoulder girdle muscle atrophy, Difficulty walking, Steppage gait, Scapul... |
ORPHA:437572 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Brain atrophy, Lower limb muscle weakness, Gait disturbance, Loss of ambulation, Skeletal muscle ... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal vibration sensation, Flexion contracture, Vocal cord paresis, Impaired distal tac... |
OMIM:607706 |
Charcot-Marie-Tooth Disease Type 1F |
|
Somatic sensory dysfunction, Inability to walk, Steppage gait, Scapular winging, Unsteady gait, G... |
ORPHA:101085 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor fine motor coordination, Impaired distal vibration sensation, Denervation of the diaphragm, ... |
ORPHA:99948 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Hand tremor, Tetraple... |
OMIM:604484 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Torticollis, ... |
ORPHA:98759 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Skeletal muscle atrophy, Distal amyotrophy, Sensory ataxia |
OMIM:618184 |
Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Cerebral cortical atrophy, Tip-toe gait, Distal lower limb amyotrophy, Lower limb muscle weakness... |
OMIM:609195 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Distal amyotrophy, Spastic paraplegia |
OMIM:182815 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Difficulty walking, Proximal amyotrophy, Scapular wi... |
OMIM:601287 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal sensory impairment, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Limb musc... |
OMIM:118210 |
Pontocerebellar Hypoplasia, Type 1B |
|
Spasticity, Flexion contracture, Oculomotor apraxia, Cerebellar cyst, Tongue fasciculations, Skel... |
OMIM:614678 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal amyotrophy, Upper limb muscle weakness, Distal sensory impairment |
OMIM:607791 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Hand muscle atrophy, Weakness of facial musculature, Foot dorsiflexor weakness, Clonus, To... |
OMIM:618811 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Postural tr... |
OMIM:619790 |
Autosomal Recessive Ataxia, Beauce Type |
|
Spasticity, Ankle clonus, Lower limb muscle weakness, Clumsiness, Gait disturbance, Upper motor n... |
ORPHA:88644 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Cerebral cortical atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Impaired distal tactile sensation, Distal amyotrophy, Gait disturbance, Foot dorsiflexor weakness |
OMIM:618400 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fiber... |
ORPHA:401768 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy |
OMIM:616471 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Clumsiness, Muscle eosinophi... |
OMIM:253600 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Muscle fiber atrophy, Inability to walk, Difficulty walking, Hypertonia, Distal amyotrophy, Lower... |
ORPHA:300605 |
Myosclerosis, Autosomal Recessive |
|
Neck joint contracture, Achilles tendon contracture, Skeletal muscle atrophy, Facial palsy |
OMIM:255600 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Generalized amyotrophy, Myoclonus, Frequent falls, Action myoclonus |
OMIM:616540 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Prog... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Prog... |
ORPHA:276241 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
Spinocerebellar Ataxia 1 |
|
Chorea, Dilated fourth ventricle, Spasticity, Fasciculations, Paresthesia, Dysdiadochokinesis, Tr... |
OMIM:164400 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, F... |
ORPHA:496756 |
Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers |
ORPHA:480 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Flexion contracture, Distal sensory impairment, Babinski sign, Tremor, Foot dorsiflex... |
OMIM:609260 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Skeletal muscle atrophy |
ORPHA:3294 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Spasticity, Abnormal cerebellum morphology, Pseudobulbar paralysis, Upper limb spasticity, Abnorm... |
ORPHA:100996 |
Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Tongue fasciculations, Spinal muscu... |
OMIM:253300 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Upper limb muscle weakn... |
OMIM:302802 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Spasticity, Abnormal pyramidal sign, Distal lower limb amyotrophy, Dege... |
ORPHA:276244 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebral cortical atrophy, Inability to walk, Spastic tetraparesis, Skeletal muscle atrophy, Clon... |
OMIM:617481 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Distal lower limb amyotrophy, Impaired distal tactile sensation, Foo... |
OMIM:600882 |
Rigid Spine Syndrome |
|
Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Hamstring contract... |
ORPHA:97244 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Distal sensory impairment, Skeletal muscle atrophy, Hand muscle atrophy |
ORPHA:99944 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Degeneration of the lateral ... |
ORPHA:320355 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Increased variability in muscle fiber diameter, Myoclonus, Athetosis, Dandy-Walker malfor... |
OMIM:617235 |
Pontocerebellar Hypoplasia, Type 11 |
|
Spasticity, Inability to walk, Cerebellar hypoplasia, Poor coordination, Limb ataxia, Ataxia, Hyp... |
OMIM:617695 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, Steppage gait, EMG: myopathic abnormalities |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Tetraparesis, Skele... |
OMIM:616827 |
Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Falls, Generalized amyotrophy, Rigidity, Dysmetria, Unsteady gait |
OMIM:203740 |
Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Babinski sign, Abnormal lower motor neuron morphology, Amyot... |
OMIM:602433 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cerebral cortical atrophy, Spastic tetraplegia, Limb hypertonia, Cerebellar hypoplasia, Abnormali... |
OMIM:619527 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Lower limb muscle weakness, Inability to walk, Gait disturbance, EMG... |
ORPHA:99939 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Fasciculations, Generalized amyotrophy, Parkinsonism, Apraxia, Abnormality ... |
ORPHA:275872 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Flexion contracture, Myoclonus, Cerebellar gliosis, Babinski sign, Ataxia, Dysmetria... |
OMIM:616505 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Charcot-Marie-Tooth Disease And Deafness |
|
Limb muscle weakness, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Distal sensory... |
OMIM:118300 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Distal s... |
OMIM:605588 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Neuronal loss in central nervous system, Weakness of facial musculature, Myopathy, Sk... |
OMIM:616239 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spasticity, Abnormal pyramidal sign... |
ORPHA:352641 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Impaired distal vibration sensation, Cerebral cortical atrophy, Pseudobulbar paralysi... |
OMIM:616586 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Limb hypertonia, Choreoathetosis, Cerebral atrophy, Cerebellar atrophy, Distal amyotrophy |
OMIM:618247 |
Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn... |
ORPHA:1145 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Inability to walk, Loss of ability to walk in early childhood, Ragged-red... |
OMIM:609560 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... |
ORPHA:119 |
Charcot-Marie-Tooth Disease Type 4G |
|
Upper limb amyotrophy, Gait imbalance, Impaired tactile sensation, Impaired pain sensation, Loss ... |
ORPHA:99953 |
Peroxisome Biogenesis Disorder 6B |
|
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Ataxia, Cerebellar atrophy, Distal... |
OMIM:614871 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, Skeletal muscl... |
ORPHA:98757 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Distal amyotrophy, Nonprogressive muscular atrophy |
ORPHA:1216 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Gait disturbance, Loss of ... |
OMIM:616516 |
Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Waddling gait, Facial palsy |
OMIM:610542 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Spasticity, Fasciculations, Parkinsonism, Truncal ataxia, Rigidity, Abn... |
OMIM:109150 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi... |
OMIM:310300 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Lower limb muscl... |
ORPHA:100993 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Dysmetria, Myoclonus, Skeletal muscle atrophy |
OMIM:618251 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein, Cerebral cortical atrophy, Parkinsonism, Apraxia... |
ORPHA:1020 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Limb hypertonia, Generalized amyotrophy, Spastic tetraplegia, Diffuse cerebral atrophy, Ataxia, D... |
OMIM:617710 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Generalized amyotrophy, Congenital muscular dystrophy, Achilles tendon contractu... |
OMIM:613205 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Gait disturbance, Spastic paraplegia, Babinski sign, ... |
ORPHA:139578 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal pyramidal sign, Abnormal cerebellum morphology, Lower limb muscle weakness, Babinski sig... |
OMIM:610532 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Upper limb postural tremor, Action tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:180800 |
Madras Motor Neuron Disease |
|
Abnormal cerebellum morphology, Babinski sign, Limb fasciculations, Distal amyotrophy, Facial palsy |
ORPHA:137867 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lower limb muscle weakness, Spastic gait, Ataxia, Babinski sign, ... |
OMIM:270700 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:602771 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Spasticity, Gait disturbance, Ataxia, Myopathy |
OMIM:125250 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Babinski sign, Spastic paraparesis, Imp... |
OMIM:500013 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Oculomotor apra... |
ORPHA:95433 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Lower limb muscle weakness, Generalized amy... |
ORPHA:1177 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Achilles tendon contr... |
ORPHA:254361 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
Amyotrophy, Monomelic |
|
Interosseus muscle atrophy, Upper limb muscle weakness, Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Limb muscle weakness, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Distal sensory... |
OMIM:608340 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Leber Optic Atrophy And Dystonia |
|
Spasticity, Upper motor neuron dysfunction, Skeletal muscle atrophy, Athetosis, Bradykinesia |
OMIM:500001 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Atrophy/Degeneration involving the s... |
ORPHA:70595 |
Thyrocerebroretinal Syndrome |
|
Myoclonus, Skeletal muscle atrophy, Slurred speech, Ataxia |
OMIM:274240 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Degeneration of anteri... |
OMIM:301830 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal sensory impairment, Axonal degeneration |
OMIM:606482 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Calf muscle hypertrophy, Scapulohumeral muscular dystrophy, Shoulder girdle muscle atrophy, Skele... |
OMIM:158900 |
Microhydranencephaly |
|
Multiple joint contractures, Spastic tetraplegia, Generalized amyotrophy, Cerebellar hypoplasia, ... |
OMIM:605013 |
Intermediate Nemaline Myopathy |
|
Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl... |
ORPHA:171433 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy |
OMIM:618244 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Gait ataxia, Spasticity, Hyperkinetic movements, Ataxia, Babinski sign, Loss of ambulation, Skele... |
OMIM:620089 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Fasciculati... |
ORPHA:52430 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
Myasthenic Syndrome, Congenital, 10 |
|
Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Waddling gait |
OMIM:254300 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Dysdiadochokinesis, Babinski sign, Dysmetria, Hypertonia, Neurof... |
OMIM:610217 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Distal sensory impairment, Facial palsy |
OMIM:601382 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Skeletal muscle atrop... |
OMIM:611890 |
Nemaline Myopathy 10 |
|
Flexion contracture, Fatty replacement of skeletal muscle, Facial palsy, Nemaline bodies, Skeleta... |
OMIM:616165 |
Cog8-Cdg |
|
Myoclonus, Ataxia, Skeletal muscle atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting th... |
ORPHA:95428 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Spasticity, Broad-based gait, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita |
OMIM:162370 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Difficulty walking, Ataxia |
OMIM:616684 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Rigidity, Ataxia, Babinski sign, Tremor, Skeletal muscle atrophy, Olivopontocerebel... |
OMIM:146500 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Upper limb amyotrophy, Inability to walk, Postural tremor, Distal lo... |
ORPHA:99950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Somatic sensory dysfunction, Limb-girdle muscle weakness, Inability to walk, Upper motor neuron d... |
ORPHA:466768 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy |
OMIM:613723 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Gait disturbance, Skeletal muscle atrophy, Ataxia |
OMIM:618239 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Hypoesthesia, Babinski sign, Frequent falls, Impa... |
OMIM:607459 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Corpus callosum atrophy, Ankle clonus, Postural tremor, Cerebellar hypoplasia, Truncal ataxia, Oc... |
ORPHA:412057 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Rigidity, Choreoathetosis, Hypomimic face, Ataxi... |
OMIM:606159 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Spastic Paraplegia 16, X-Linked |
|
Shuffling gait, Lower limb muscle weakness, Babinski sign, Spastic paraplegia, Facial hypotonia, ... |
OMIM:300266 |
Gm1-Gangliosidosis, Type Iii |
|
Slurred speech, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia |
OMIM:230650 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar vermis atrophy, Truncal ataxia, Gait disturbance, Limb ataxia, Ataxia, Cerebellar atrophy |
OMIM:614229 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Corpus callosum atrophy, Spasticity, Hemiparesis, Gait disturbance, Ataxia, Spastic paraplegia, W... |
ORPHA:98673 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Muscular dystrophy, Impaired pain sensation, Aplasia/Hypoplasia involvin... |
ORPHA:2926 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... |
OMIM:619461 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebral atrophy, Cerebellar atrop... |
OMIM:300894 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Gait apraxia, Brain atrophy, Cerebellar hypoplasi... |
OMIM:617302 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Flexion contracture, Ataxia, Cerebellar atrophy, Unsteady gait, Neurodegeneration |
OMIM:615919 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal amyotrophy, Distal sensory impairment, Gait disturbance |
OMIM:311070 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... |
OMIM:157640 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Inability to walk, Type 1 fibers relatively smaller t... |
ORPHA:596 |
Marinesco-Sjögren Syndrome |
|
Spasticity, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Muscular dystrophy, Rig... |
ORPHA:559 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Allan-Herndon-Dudley Syndrome |
|
Flexion contracture, Generalized amyotrophy, Inability to walk, Spastic tetraplegia, Ataxia, Babi... |
OMIM:300523 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Distal sensory impairment, Foot dorsiflexor weakness, Steppage gait |
OMIM:607736 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, General... |
ORPHA:171881 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Proximal amyotrophy, Generalized amyotrophy, Cerebellar atrophy, Ragged-red muscle fibers, Facial... |
OMIM:615084 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Paresthesia, Generaliz... |
ORPHA:79279 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal pyramidal sign, Gait imbalance, Weakness of facial musculature, Loss of ambulation, Skel... |
ORPHA:329336 |
Developmental And Epileptic Encephalopathy 51 |
|
Abnormal pyramidal sign, Cerebral cortical atrophy, Inability to walk, Babinski sign, Skeletal mu... |
OMIM:617339 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Gait disturbance, Hand tremor, Babinski sign, Spa... |
ORPHA:101076 |
Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:101082 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Skeletal muscle atrophy, Appendicular spasticity, Cerebellar hypoplasia |
OMIM:617255 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spinal muscular atrophy, Ske... |
OMIM:616867 |
Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Motor neuron atrophy, Paralysis, Skeletal muscle atrophy, Amyotrophic lateral scleros... |
ORPHA:803 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... |
OMIM:181405 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Neuronal loss in central nervous system, Ce... |
OMIM:256600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga... |
OMIM:606002 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Hoffmann sign, Generalized amyotrophy, Spastic gait, Resting tremor, Gait disturbanc... |
OMIM:601162 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Tremor, Distal sensory impairment |
OMIM:607734 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Cerebellar hypoplasia, Titubation, Ataxia, Dystonic gait, Difficulty walking, ... |
ORPHA:280210 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Arthrogryposis multi... |
OMIM:608931 |
Harel-Yoon Syndrome |
|
Spasticity, Inability to walk, Ataxia, Cerebellar atrophy, Distal amyotrophy |
OMIM:617183 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy |
ORPHA:98896 |
Pontocerebellar Hypoplasia, Type 1D |
|
Spasticity, Flexion contracture, Cerebral cortical atrophy, Multiple joint contractures, Generali... |
OMIM:618065 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Hypertonia, Tetraplegia, Cerebellar atrophy, ... |
OMIM:619272 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy, Gait disturbance |
ORPHA:157973 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Tip-toe gait, Generalized amyotrophy, Lower limb... |
OMIM:612954 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Somatic sensory dysfunction, Dysdiadochokinesis, ... |
ORPHA:502423 |
Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy |
OMIM:618635 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Inability to walk, Dysdiadochokinesis, Truncal at... |
OMIM:617675 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Hand tremor, Tongue fasciculations, Impaired distal tactile sensation, Skeletal muscle atrophy, F... |
OMIM:162400 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Myopathic Ehlers-Danlos Syndrome |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... |
ORPHA:536516 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic gait, Babinski sign, Spastic paraplegia, Lower limb spasticity, Clonus, Atrophy of the sp... |
OMIM:256840 |
Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Myoclonus, Ataxia, Tremor, Skeletal muscle atrophy, Limb muscle weakne... |
ORPHA:97229 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Skeletal muscle atrophy, Cerebral atrophy, Inability to walk |
ORPHA:457205 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Limb muscle weakness, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Distal sensory... |
OMIM:118220 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Unsteady gait, Distal sensory impairment, Skeletal muscle atrophy |
OMIM:300614 |
Duchenne And Becker Muscular Dystrophy |
|
Gait disturbance, Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Adenylosuccinase Deficiency |
|
Gait ataxia, Spasticity, Inability to walk, Myoclonus, Hemiplegia, Skeletal muscle atrophy, Cereb... |
OMIM:103050 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Hippocampal atrophy, Neu... |
OMIM:608907 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Lower limb muscle weakness, Truncal ataxia, Paraparesis, ... |
OMIM:300100 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Flexion contracture, Ankle clonus, Abnormal pyramidal sign, Limb hypertonia, Spastic ... |
ORPHA:59 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Cere... |
OMIM:214150 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... |
OMIM:255160 |
Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Spasticity, Skeletal myopathy, Left ventricular hypertrophy, Ataxia, Ba... |
ORPHA:3208 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Brain atrophy, Neuronal loss in central nervous s... |
OMIM:604377 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We... |
ORPHA:98913 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Steppage gait, Foot dorsiflexor weakness, Difficulty walking, Distal amyotrophy, Distal sensory i... |
OMIM:604563 |
Ataxia With Vitamin E Deficiency |
|
Tendon xanthomatosis, Dysdiadochokinesis, Clumsiness, Gait disturbance, Ataxia, Positive Romberg ... |
OMIM:277460 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
Kennedy Disease |
|
Gait disturbance, Skeletal muscle atrophy |
ORPHA:481 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Generalized amyotrophy, Clumsiness, Ataxia, Tongue fasciculations, Limb muscle weakness, Facial p... |
OMIM:614707 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired vibration sensation in the lower limbs, Joint contracture of the hand, Camptodactyly, At... |
OMIM:609033 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy |
ORPHA:565899 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Exaggerated star... |
ORPHA:320406 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Spasticity, Impaired vibration sensation at ankles, Tip-toe gait, Cerebral cortical atrophy, Spas... |
ORPHA:447760 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Loss of ability to walk in first decade, Flexion contracture, Hyperkinetic movements, Truncal ata... |
OMIM:300243 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Limb muscle weakness, Foot dorsiflexor weakness, Steppage gait, Distal amyotrophy, Distal sensory... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Distal amyotrophy, Inability to walk by childhood/adolescence, Distal sensory impairment, Axonal ... |
OMIM:214400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Falls, Generalized amyotrophy, Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Shoulde... |
OMIM:615156 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Distal amyotrophy, Oculomotor apraxia, Congenital foot contractures |
ORPHA:3454 |
Leukodystrophy, Hypomyelinating, 3 |
|
Corpus callosum atrophy, Global brain atrophy, Abnormal pyramidal sign, Appendicular spasticity, ... |
OMIM:260600 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy |
OMIM:614932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:607831 |
Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait... |
OMIM:607822 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Cerebellar hypoplasia, Oculomotor apraxia, Myoclonus, Choreoathetosis, Ataxia, Spasti... |
OMIM:614969 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Difficulty walking, Tongue fasciculations, Distal amyotrophy, Upper limb mus... |
OMIM:601596 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia |
OMIM:615113 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia |
OMIM:105300 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Clumsiness, Generali... |
ORPHA:521411 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Weakness of facial musculature, Myopathy, Cerebellar atrophy, Ragged-red ... |
ORPHA:352447 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Gait disturbance, Ataxia, Hypertonia |
ORPHA:1399 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Gait disturbance, Skeletal muscle atrophy |
ORPHA:2840 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis |
OMIM:615511 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Opisthotonus, Skeletal muscle atrophy, Hypertonia |
OMIM:616896 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal pyramidal sign, Abnormal cerebellum morphology, Spastic paraplegia, Steppage gait, Dista... |
OMIM:256850 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
ORPHA:171436 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Global brain atrophy, Exaggerated startle response, Ankle clonus, Q... |
ORPHA:845 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Inability to walk, Impaired distal tactile sensation, Pain insensitivity, Trophic... |
ORPHA:36386 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Congenital Myopathy 19 |
|
Gait disturbance, Facial hypotonia, Skeletal muscle atrophy, Congenital contracture |
OMIM:618578 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal pyramidal sign, Lower limb muscle weakness, Inability to walk, Ataxia, Facial diplegia, ... |
ORPHA:254930 |
Sialidosis Type 2 |
|
Tremor, Flexion contracture, Skeletal muscle atrophy, Ataxia |
ORPHA:87876 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Spinal muscular atrophy, Weakness of facial musculature, Myopathy, Skeletal muscle atrophy, Diffi... |
ORPHA:254875 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Spasticity, Spastic gait, Cerebellar atrophy, Lower limb amyotrophy |
ORPHA:496790 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
Schindler Disease, Type I |
|
Spasticity, Generalized amyotrophy, Myoclonus |
OMIM:609241 |
Becker Muscular Dystrophy |
|
Tip-toe gait, Skeletal muscle atrophy, Falls, Difficulty walking |
ORPHA:98895 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Tibialis muscle weakness, Poor fine motor coordination, Spasticity, Lower limb muscle weakness, B... |
ORPHA:320375 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... |
OMIM:255310 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Flexion contracture, Paresthesia, Cerebral palsy, Gait disturban... |
ORPHA:682 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Hypoplasia of the musculature, A... |
OMIM:253310 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal cerebral atrophy, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism w... |
ORPHA:199351 |
Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Skeletal muscle atrophy, Hip contracture, Waddling gait |
OMIM:606631 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture, Ankle clonus, Inability to walk, Babinski sign... |
OMIM:609541 |
Flynn-Aird Syndrome |
|
Impaired pain sensation, Cerebral cortical atrophy, Skeletal muscle atrophy, Ataxia |
ORPHA:2047 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Cataplexy, Upper limb spasticity, Tongue fasciculations, Diffuse cerebral atro... |
OMIM:617193 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Skeletal muscle atrophy |
OMIM:615578 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Skeletal muscle atrophy |
ORPHA:2028 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... |
OMIM:255125 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Limb muscle weakness, Paralysis, Skeletal muscle atrophy |
OMIM:612300 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Parkinsonism, Self-mutilation of tongue and lips due to involuntary ... |
OMIM:200150 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Axonal degeneration |
OMIM:162100 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Cerebral cortical atrophy, Multiple joint contractures, Cerebellar hypoplasi... |
OMIM:618291 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Impaired distal vibration sensation, Inability to walk, Vocal cord paresis, Tongue f... |
ORPHA:99949 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Ataxia, Hypertonia |
ORPHA:31 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Parkinsonism, Proximal spinal muscular atrophy, EMG: myopat... |
ORPHA:1320 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spasticity, Ankle clonus, Abnormal cerebellum morphology, Spastic gait, Spastic dysarthria, Babin... |
ORPHA:101000 |
L1 Syndrome |
|
Gait disturbance, Spasticity, Hemiplegia/hemiparesis, Skeletal muscle atrophy |
ORPHA:275543 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Cerebellar dysplasia, Cerebellar hypoplasia, Musc... |
OMIM:613150 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Myoclonic spasms, Poor coordination, Diffuse cerebellar atrophy, Axonal deg... |
ORPHA:478029 |
Ataxia-Telangiectasia |
|
Spasticity, Gait disturbance, Ataxia, Tremor, Skeletal muscle atrophy |
ORPHA:100 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn... |
OMIM:271225 |
Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Cerebral cortical atrophy, Inability to walk, Babinski sign, Skeletal muscle atrophy,... |
OMIM:616420 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spastic paraplegia |
OMIM:619026 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Akinesia, Parkinsonism, Rigidity,... |
OMIM:616840 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal amyotrophy, Distal sensory impairment, Gait disturbance |
OMIM:601455 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Myopathy, Skeletal muscle atrophy,... |
ORPHA:206569 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Joint contracture, Spastic tetraplegia |
OMIM:615419 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Spasticity, Blepharospasm, Decreased muscle mass, Abnormal pyramidal sign, ... |
OMIM:234200 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
Rett Syndrome |
|
Gait ataxia, Spasticity, Gait apraxia, Cerebral cortical atrophy, Truncal ataxia, Skeletal muscle... |
OMIM:312750 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles |
OMIM:619132 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... |
OMIM:601104 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Rhabdomyolysis, Spastic tetraplegia, Spastic diplegia, Poor coordination, Gait distu... |
OMIM:616878 |
Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Brain atrophy, Autophagic vacuoles, Ataxia, EMG: ... |
OMIM:164310 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:615980 |
Congenital Myopathy 13 |
|
Fatty replacement of skeletal muscle, Flexion contracture, Skeletal muscle atrophy |
OMIM:255995 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Ataxia, Facial diplegia, Skeletal muscle atrophy, Facial paralysis, Distal sensory impairment |
OMIM:613559 |
Krabbe Disease |
|
Progressive spasticity, Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigi... |
OMIM:245200 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Spastic diplegia, Poor coordination, Choreoathetosis, Diffuse ce... |
ORPHA:391428 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Limb hypertonia, Generalized amyotrophy, Spastic tetraplegia, Ataxia, D... |
ORPHA:572798 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Spastic tetraplegia, Cerebellar hypoplasia, Rigidity, Ataxia, Difficulty walking, Chi... |
OMIM:618476 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Postural tremor, Park... |
OMIM:609454 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction |
OMIM:612079 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia |
ORPHA:1933 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Gait disturbance, Myopathy, Skeletal muscle atrophy |
ORPHA:85329 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Flexion contracture, Cerebral cortical atrophy, Generalized amyotrophy, Postural trem... |
OMIM:301072 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... |
ORPHA:171430 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Skeletal... |
OMIM:615418 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Flexion contracture, Inability to walk, Facial diplegia, Tremor, Skeletal muscle atrophy, Limb tr... |
OMIM:218000 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Spasticity, Myoclonus, Type 1 muscle fiber predom... |
OMIM:612949 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Spasticity, Temporal cortical atrophy, Skeletal muscle atrophy |
OMIM:618862 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Inability to walk, Lower limb muscle weakness, Parkinsonism, Progressi... |
ORPHA:2822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Cerebellar cyst, Cerebellar v... |
OMIM:616538 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Progressive spastic paraplegia, Distal amyotrophy, Spastic gait |
ORPHA:2821 |
Sialidosis Type 1 |
|
Myoclonus, Gait disturbance, Ataxia, Slurred speech, Tremor, Skeletal muscle atrophy |
ORPHA:812 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Choreoathetosis, Ataxia, Skeletal muscle atrophy, Cerebral atro... |
OMIM:615471 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Cerebral cortical atrophy, Progressive spasticity, Cataplexy, Ataxia, Skeletal muscle... |
ORPHA:496641 |
Neuraminidase Deficiency |
|
Dysmetria, Skeletal muscle atrophy, Slurred speech, Myoclonus |
OMIM:256550 |
Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Contractures of the large joints, Skeletal muscle atrophy, Broad-based gait |
OMIM:616716 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Skeletal muscle hypertrophy |
OMIM:608390 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... |
ORPHA:100070 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity |
ORPHA:85323 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Spasticity, Flexion contracture, Limb hypertonia, Inability to walk, Ataxia... |
ORPHA:481152 |
Niemann-Pick Disease, Type A |
|
Spasticity, Inability to walk, Rigidity, Skeletal muscle atrophy, Athetosis |
OMIM:257200 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy |
ORPHA:2348 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Spasticity, Babinski sign, Skeletal muscle atrophy, Hypertonia, Cerebral atrophy, Cerebellar verm... |
OMIM:615802 |
Native American Myopathy |
|
Muscle fiber atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly... |
ORPHA:168572 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Ataxia |
ORPHA:42 |
Pparg-Related Familial Partial Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal musc... |
ORPHA:79083 |
Sandhoff Disease |
|
Spasticity, Exaggerated startle response, Upper motor neuron dysfunction, Macroglossia, Ataxia, S... |
OMIM:268800 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Spastic tetraplegia, Myoclonus, Left ventricular hypertrophy, Ataxia, Cerebr... |
OMIM:618321 |
Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Spasticity, Cataplexy, Ataxia, Neuronal loss in central nervous system, Neurofibrill... |
OMIM:257220 |
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 |
Norrie Disease |
|
Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy |
OMIM:310600 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy |
OMIM:618603 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Babinski sign, Difficulty walking, Hypertonia, Neurodegeneration, Broad-based g... |
ORPHA:79244 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Inability to walk, Tr... |
ORPHA:70 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy |
ORPHA:156 |
Leigh Syndrome |
|
Chorea, Abnormal dentate nucleus morphology, Spasticity, Multiple joint contractures, Spastic dip... |
ORPHA:506 |
Atrial Standstill |
|
Flexion contracture, Muscular dystrophy, Left ventricular noncompaction, Hemiplegia, Skeletal mus... |
ORPHA:1344 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Skeletal musc... |
ORPHA:368 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:245400 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Hip contracture, Joint contracture of the hand, Shoulder flexion contr... |
OMIM:255800 |
Refsum Disease |
|
Ataxia, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Abnormal pyramidal sign |
ORPHA:773 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy, Chiari malformation |
ORPHA:94063 |
Synaptic Congenital Myasthenic Syndromes |
|
Type 1 muscle fiber predominance, Waddling gait, Myopathy, Skeletal muscle atrophy, Type 2 muscle... |
ORPHA:98915 |
Japanese Encephalitis |
|
Opisthotonus, Respiratory paralysis, Paucity of anterior horn motor neurons, Abnormality of extra... |
ORPHA:79139 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia of the pectoralis major muscle, Myopathy, Skeletal ... |
ORPHA:1358 |
Rett Syndrome |
|
Inability to walk, Limb apraxia, Gait disturbance, Skeletal muscle atrophy, Difficulty walking, B... |
ORPHA:778 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture, Calf muscle hypertrophy, Cerebellar hypoplasia... |
OMIM:253800 |
Poliomyelitis |
|
Paresthesia, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Inability to walk, ... |
ORPHA:2912 |
Walker-Warburg Syndrome |
|
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Muscular dystrophy, Aplasia/Hypopla... |
ORPHA:899 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Clonus, Type 1 fibers relatively smaller than type 2 fibers, Tremor, Facial palsy |
OMIM:619424 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Parkinsonism, Apraxia, Neuronal loss in central nervous system, Neurof... |
OMIM:607485 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Myoclonus, C... |
ORPHA:17 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy |
ORPHA:3068 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy, Abnorma... |
ORPHA:367 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:230839 |
Renpenning Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3242 |
Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Steppage gait |
ORPHA:168563 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:1876 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:614300 |
Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Progressive spasticity, Gait dis... |
ORPHA:192 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Oculomotor apraxia, Central nervous system degeneration, Neurodegener... |
ORPHA:447788 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Ataxia, Babinski sign, Tetraparesis, Skeletal muscle atrophy |
OMIM:300232 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Skeletal muscle atrophy |
ORPHA:75496 |
Chediak-Higashi Syndrome |
|
Gait disturbance, Ataxia, Tremor, Foot dorsiflexor weakness, Neurodegeneration |
OMIM:214500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Skeletal muscle atrophy |
OMIM:619183 |
Alzheimer Disease 4 |
|
Apraxia, Senile plaques, Neurofibrillary tangles |
OMIM:606889 |
Neu-Laxova Syndrome |
|
Flexion contracture, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Muscular dystr... |
ORPHA:2671 |
Triosephosphate Isomerase Deficiency |
|
Spasticity, Myopathy, Skeletal muscle atrophy, Tremor, Cerebral atrophy, Unsteady gait |
OMIM:615512 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Proximal amyotrophy, Type 2 muscle fiber atrophy |
OMIM:159400 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Spasticity, Tongue fasciculations, Increased intramyocellular lipid droplets, Ataxia, Babinski si... |
OMIM:252010 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Spasticity, Intention tremor, Neurofibrillary tangles |
OMIM:117300 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Speech apraxia, Paralysis, Tongue fasciculations, Incoordination, Tr... |
ORPHA:297 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy |
ORPHA:127 |
3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Skeletal muscle atrophy, Ataxia |
ORPHA:435638 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Skeletal muscle atrophy |
OMIM:603387 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy |
OMIM:608779 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Torticollis, Macroglossia |
OMIM:617022 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Inability to walk, Increased intramyocellular lipid droplets, Skeletal muscle atr... |
ORPHA:26791 |
Mucopolysaccharidosis, Type Ii |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:309900 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Skeletal muscle atrophy |
OMIM:616200 |
Trisomy 17P |
|
Flexion contracture, Skeletal muscle atrophy, Macroglossia, Hypertonia |
ORPHA:261290 |
Farber Disease |
|
Spasticity, Flexion contracture, Brain atrophy, Paraparesis, Myoclonus, Skeletal muscle atrophy |
ORPHA:333 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Opisthotonus, Skeletal muscle atrophy, Cerebral palsy |
OMIM:210210 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:253220 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Myopathy |
OMIM:611881 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Niemann-Pick Disease, Type C2 |
|
Cataplexy, Spasticity, Ataxia, Neurofibrillary tangles |
OMIM:607625 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy |
ORPHA:110 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy |
OMIM:219080 |
Hurler Syndrome |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:607014 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy |
OMIM:614856 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Donohue Syndrome |
|
Skeletal muscle atrophy |
OMIM:246200 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Spasticity, Contractures of the large joints, Dense calcifications i... |
ORPHA:191 |
Carey-Fineman-Ziter Syndrome 1 |
|
Flexion contracture, Pectoralis hypoplasia, Hypoplasia of the musculature, Weakness of facial mus... |
OMIM:254940 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy |
ORPHA:90045 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Elbow flexion contr... |
OMIM:305620 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Congenital muscular torticollis, Skeletal muscle atrophy, Arthrogryposis... |
ORPHA:2215 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Myopathy, Skeletal muscle atrophy |
OMIM:619743 |
Tbck-Related Intellectual Disability Syndrome |
|
Global brain atrophy, Diastasis recti, Inability to walk, Macroglossia, Skeletal muscle atrophy |
ORPHA:488632 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skeletal muscle atrophy |
OMIM:615934 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Skeletal muscle atrophy, Rhabdomyolysis, Pelvic girdle muscle weakness |
ORPHA:79240 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Skeletal muscle atrophy, Rhabdomyolysis, Increased sarcoplasmic glyc... |
ORPHA:370 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Muscular d... |
ORPHA:2461 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ataxia, Loss of ambulation, Pain insensitivity, Skeletal muscle atrophy, Painless fractures due t... |
OMIM:256810 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, ... |
ORPHA:2990 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
Pontocerebellar Hypoplasia Type 7 |
|
Spasticity, Myoclonus, Skeletal muscle atrophy, Hypertonia, Involuntary movements, Olivopontocere... |
ORPHA:284339 |
Cockayne Syndrome Type 3 |
|
Dense calcifications in the cerebellar dentate nucleus, Flexion contracture, Brain atrophy, Skele... |
ORPHA:90324 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of ... |
OMIM:601701 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Myopathy, Skeletal muscle atrophy, Type 1 muscle fiber predominance |
OMIM:614557 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Tip-toe gait, Falls, Spastic diplegia, Cerebral palsy, Spastic tetraplegia, Torticoll... |
OMIM:619475 |
Graft Versus Host Disease |
|
Myositis, Skeletal muscle atrophy, Dupuytren contracture |
ORPHA:39812 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Localized Scleroderma |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:90289 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Waddling gait |
OMIM:131300 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy |
OMIM:219090 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Werner Syndrome |
|
Skeletal muscle atrophy |
ORPHA:902 |
Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
ORPHA:570 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Blepharospasm, Hip contracture, Gait disturbance, Shoulder flexion con... |
ORPHA:800 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Steinert Myotonic Dystrophy |
|
Poor fine motor coordination, Cerebral cortical atrophy, Falls, Inability to walk, Abnormality of... |
ORPHA:273 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy |
OMIM:615895 |
Leprosy |
|
Paresthesia, Dysesthesia, Skeletal muscle atrophy, Foot dorsiflexor weakness, Steppage gait, Diss... |
ORPHA:548 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:109 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1969 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Blepharospasm, Camptodactyly |
ORPHA:233 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, Spastic diplegia, Poor coordination, Camptodactyly, Skeletal muscle atrophy,... |
OMIM:309590 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Skeletal muscle atrophy |
ORPHA:89842 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy |
ORPHA:1328 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopathy, Skeletal muscle atrophy, Difficulty walking |
ORPHA:536545 |
Primrose Syndrome |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Ataxia, Skeletal muscle atrophy, ... |
OMIM:259050 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy |
OMIM:614162 |
Idiopathic Hypereosinophilic Syndrome |
|
Somatic sensory dysfunction, Paresthesia, Skeletal muscle atrophy |
ORPHA:3260 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma |
ORPHA:647 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy |
OMIM:222700 |
Cystinosis, Nephropathic |
|
Myopathy, Skeletal muscle atrophy, Cerebral atrophy |
OMIM:219800 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Macroglossia, Flexion co... |
OMIM:256040 |
Pierson Syndrome |
|
Skeletal muscle atrophy |
OMIM:609049 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Macroglossia |
ORPHA:828 |
Marfan Syndrome |
|
Skeletal muscle atrophy |
ORPHA:558 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormality of the Achilles tendon, Calf muscle hypertrophy |
ORPHA:79474 |
Leprechaunism |
|
Skeletal muscle atrophy |
ORPHA:508 |