Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Abnormal cerebellum morphology, Babinski ... |
OMIM:615681 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Abnormal cerebellum morphology, Knee flex... |
ORPHA:401785 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Quadriceps ... |
ORPHA:482601 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,... |
OMIM:617018 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... |
OMIM:158600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 4 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper l... |
OMIM:613376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... |
OMIM:615025 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire... |
OMIM:612335 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Steppage... |
OMIM:616280 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc... |
OMIM:614881 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal... |
ORPHA:357043 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
|
Distal lower limb amyotrophy, Unsteady gait, Distal sensory impairment, Distal lower limb muscle ... |
OMIM:617017 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, ... |
OMIM:616282 |
Spinocerebellar Ataxia Type 43 |
|
Unsteady gait, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Cogwheel rigidity, Distal sen... |
ORPHA:497764 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ... |
OMIM:601472 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness |
OMIM:618036 |
Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy, Distal sensory impairment |
OMIM:300489 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gai... |
OMIM:615686 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia... |
OMIM:610357 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Knee flexion contracture, Distal se... |
OMIM:615043 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:616625 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory... |
OMIM:610250 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Distal lower limb amyotrophy, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
ORPHA:73245 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Impaired vibration sens... |
OMIM:182960 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Babi... |
OMIM:615658 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Difficulty walking, Frequent ... |
OMIM:619112 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, T... |
OMIM:618276 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait |
ORPHA:401805 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple... |
OMIM:611225 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping |
OMIM:614369 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Claw hand deformity, Lower limb muscle weakness, Impaired pain sensation, Impaired distal vibrati... |
OMIM:618511 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal amy... |
OMIM:618387 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Spinal muscular atrophy, Spastic tetraplegia, Distal amyotrophy, Spas... |
OMIM:617207 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... |
OMIM:612020 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Impaired distal vibration sensation, Distal sensory impairment, Wea... |
OMIM:619519 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Babinski sign, Distal amyotrophy, Difficulty walking, Distal lower limb muscl... |
ORPHA:468661 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign... |
ORPHA:496689 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Unsteady gait, Cerebellar vermis atrophy, Babinski sign, Dysmetria,... |
ORPHA:1175 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... |
OMIM:616924 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... |
ORPHA:2589 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation |
ORPHA:2074 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... |
OMIM:619216 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Spinal muscular atrophy, Spastic tetrapare... |
OMIM:616081 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, Upper... |
ORPHA:139536 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... |
OMIM:620068 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Paresthesia, Fasciculations |
ORPHA:85162 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, B... |
OMIM:618438 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... |
OMIM:619686 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... |
OMIM:617915 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Lower limb muscle weakness, Spinal muscular atrophy, Fasciculations, Difficulty walking, Weakness... |
OMIM:615575 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Impaired temperature sensation, Impaired pain sensation, Upper limb... |
ORPHA:99940 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... |
OMIM:608030 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
Hereditary Motor And Sensory Neuropathy V |
|
Babinski sign, Abnormal pyramidal sign, Spasticity, Distal sensory impairment, Distal amyotrophy,... |
OMIM:600361 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor... |
OMIM:616719 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... |
OMIM:607250 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... |
OMIM:608099 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy, Distal amyotrophy |
OMIM:618135 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dor... |
OMIM:302801 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ... |
OMIM:612577 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Distal sensory impairment, Proximal amyotrophy, Distal amyotrophy, Foot dorsiflexo... |
OMIM:616040 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... |
ORPHA:98 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic par... |
OMIM:615157 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... |
OMIM:616907 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Impaired vibration sensation in the lower limbs, Limb hypertonia, Cerebell... |
ORPHA:401815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Distal sensory impairment |
OMIM:607677 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit... |
ORPHA:101077 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... |
ORPHA:276435 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Gait disturbance |
OMIM:615683 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:607731 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... |
OMIM:270800 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ... |
OMIM:167320 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Inability to walk, Achilles tendon co... |
ORPHA:2596 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness |
OMIM:607678 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... |
OMIM:620323 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal sensory impairment, Lower limb musc... |
OMIM:613287 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Impaired dis... |
OMIM:615035 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle ... |
OMIM:616479 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myo... |
OMIM:614487 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia,... |
ORPHA:98771 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abno... |
ORPHA:309162 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T... |
OMIM:609285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Impaired pain sensation, Flexion contracture, Impaired distal ... |
OMIM:607684 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sign, Ps... |
ORPHA:101006 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Impaired distal proprioception, Th... |
OMIM:270685 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... |
ORPHA:435387 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N... |
OMIM:615643 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... |
OMIM:619903 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a... |
OMIM:611067 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakness, Abnormal cerebel... |
ORPHA:100986 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, D... |
OMIM:608323 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Hypoplasia of ... |
OMIM:607596 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,... |
OMIM:615491 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Claw hand deformity, Spinal muscular atrophy, Babinski sign, Distal amyotrophy, Foot dorsiflexor ... |
OMIM:605726 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Rigidity, Babi... |
ORPHA:100984 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap... |
OMIM:613162 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired proprioception, Impaired v... |
ORPHA:251282 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive ... |
ORPHA:276193 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... |
OMIM:618088 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment |
ORPHA:639 |
Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, P... |
OMIM:302800 |
Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Gait disturbance, Spastic diplegia, Skeletal muscle atrophy |
ORPHA:85335 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amy... |
ORPHA:313772 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Generalized limb muscle atrophy, Spasticity, Gait ataxia, Progressiv... |
ORPHA:466794 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:605589 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Hand muscle weakness, Abnormality of the foot musculature, ... |
ORPHA:100998 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor a... |
OMIM:615217 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... |
OMIM:607088 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
Charcot-Marie-Tooth Disease Type 1A |
|
Skeletal muscle atrophy, Sensory ataxia, Distal sensory impairment, Calf muscle hypertrophy, Gait... |
ORPHA:101081 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ... |
OMIM:619028 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:608673 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con... |
OMIM:606612 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
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Cerebellar atrophy, Incoordination, Ataxia, Flexion contracture, Babinski sign, Dysmetria, Gait a... |
OMIM:616204 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
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Incoordination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, Abno... |
OMIM:616688 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Sp... |
ORPHA:100988 |
Spinocerebellar Ataxia 28 |
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Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski... |
OMIM:610246 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk,... |
ORPHA:330050 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Myopathy, Distal, Tateyama Type |
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Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Distal Myotilinopathy |
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Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... |
ORPHA:98911 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Skeletal muscle atrophy, Vocal cord paresis, Broad-based gait, Intrinsic hand muscle atrophy, Gai... |
OMIM:614895 |
Pontocerebellar Hypoplasia Type 1 |
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Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Degeneration of anterior horn cells, Ton... |
ORPHA:2254 |
Autosomal Dominant Spastic Paraplegia Type 42 |
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Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:171863 |
Autosomal Recessive Spastic Paraplegia Type 78 |
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Cerebellar atrophy, Skeletal muscle atrophy, Babinski sign, Abnormal pyramidal sign, Progressive ... |
ORPHA:513436 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Cerebellar atrophy, Ataxia, Involuntary movements, Babinski sign, Clumsiness, Athetosis, Distal a... |
OMIM:271245 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Loss of Purkinje cel... |
OMIM:270550 |
Spinocerebellar Ataxia Type 12 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... |
ORPHA:98856 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Autosomal Dominant Spastic Paraplegia Type 19 |
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Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100999 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Impaired distal vibration sensation, Axonal degeneration, Distal sensory impairment, Distal amyot... |
OMIM:614436 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
Spinocerebellar Ataxia Type 1 |
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Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Loss of Purkinje cells in the cereb... |
ORPHA:98755 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
Combined Oxidative Phosphorylation Deficiency 6 |
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Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Bothnia Retinal Dystrophy |
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Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity |
OMIM:615889 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, In... |
OMIM:619065 |
Spastic Paraplegia 75, Autosomal Recessive |
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Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Impaired distal vibrat... |
OMIM:616680 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Involuntary movements, Increased variability in muscle fiber diameter, T... |
ORPHA:238329 |
Myasthenic Syndrome, Congenital, 14 |
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Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Adult-Onset Nemaline Myopathy |
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Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
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Waddling gait, Ataxia, Lower limb muscle weakness, Babinski sign, Distal sensory impairment, Step... |
OMIM:617882 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Impaired pain sensation, Fatty replacement of skeletal muscle, Impaired distal vibration sensatio... |
OMIM:618279 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Skeletal muscle atrophy, Paralysis, Distal sensory impairment, Lower-limb joint contracture, Diff... |
OMIM:613710 |
Myopathy, Distal, 3 |
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Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... |
OMIM:610099 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ... |
ORPHA:137898 |
Diaminopentanuria |
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Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Axonal degeneration, Intrinsic hand muscle atrophy, Upper limb amyo... |
ORPHA:90103 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Distal Anoctaminopathy |
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Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance |
ORPHA:101078 |
Spastic Paraplegia 11, Autosomal Recessive |
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Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Degeneration of th... |
OMIM:604360 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment |
OMIM:620253 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Impaired vibratory sensation, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, P... |
ORPHA:101097 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Cerebellar atrophy, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor aprax... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... |
OMIM:608340 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Usher Syndrome, Type Iv |
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Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Spinocerebellar Ataxia Type 36 |
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Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ... |
ORPHA:276198 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
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Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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Distal amyotrophy, Steppage gait, Somatic sensory dysfunction, Distal sensory impairment |
OMIM:615376 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,... |
ORPHA:86812 |
Spinocerebellar Ataxia 2 |
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Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc... |
OMIM:183090 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,... |
ORPHA:353 |
Rhabdomyolysis, Susceptibility To, 1 |
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Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Skeletal muscle atrophy, Diaphragmatic paralysis, Axonal degeneration, Plantar flexion contractur... |
OMIM:620011 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Impaired distal tactile se... |
OMIM:610100 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
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Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Cerebellar atrophy, Ataxia, Achilles tendon contracture, Babinski sign, Dysmetria, Distal sensory... |
OMIM:612674 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Upper limb amyotrophy, Distal sensory impairment, Difficulty walking, Lower limb amyotrophy, Foot... |
OMIM:617087 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Proximal muscle weakness in upper limbs, Impaired pain sensation, Flexion contracture, Impaired d... |
OMIM:607706 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... |
OMIM:248800 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Skeletal muscle atrophy, Inability to walk, Sensory ataxia, Facial diplegia, Distal amyotrophy |
OMIM:618184 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Lower limb spasticity, Broad-based gait, Spinal... |
OMIM:615290 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... |
OMIM:300718 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Facial palsy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, ... |
OMIM:118210 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:137200 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Hypoesthesia, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Positive Romberg... |
OMIM:601098 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic... |
OMIM:614678 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand... |
ORPHA:101085 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... |
ORPHA:98759 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness,... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Thenar muscle atrophy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Difficulty wa... |
OMIM:606483 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Hand tremor, Proximal amyotrophy, Degeneration of anterior horn cells, Tetra... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Distal sensory impairment, Upper limb muscle weakness, Gait disturbance,... |
OMIM:615284 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Babins... |
OMIM:609195 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Distal amyotrophy, Spastic paraplegia |
OMIM:182815 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellum morphology, Flexion contracture, B... |
OMIM:275900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Cerebral cortical atrophy |
OMIM:617070 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dilated fourth ventricle, Distal lower limb amyotrop... |
ORPHA:276241 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... |
OMIM:601287 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... |
OMIM:618811 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal sensory impairment, Distal amyotro... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Distal sensory impairment |
OMIM:607791 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... |
OMIM:616127 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Impaired distal tactile sensation, Distal amyotrophy, Gait disturbance, Foot dorsiflexor weakness |
OMIM:618400 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness, Steppage gait, Somatic sensory dysfunction |
OMIM:620378 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls |
OMIM:616540 |
Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Skeletal muscle atrophy, Impaired vibratory sensation, Impaired pain se... |
OMIM:164400 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop... |
OMIM:118300 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Impaired vibratory sensation, Lower limb spasticity,... |
ORPHA:88644 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Joi... |
OMIM:617481 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp... |
ORPHA:496756 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Dilated four... |
ORPHA:276244 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fasciculations, Proximal... |
OMIM:253300 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellum morphology, Babinski sig... |
ORPHA:100996 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage g... |
OMIM:302802 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonis... |
OMIM:614298 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy |
OMIM:203740 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poo... |
OMIM:617695 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Distal amyotrophy, Steppage gait, Fasc... |
OMIM:600882 |
Rigid Spine Syndrome |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance, Distal sensory impairment |
ORPHA:99944 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Hypoplasia of the pons, Spastic tetraplegia, Abnormality of extrapyramid... |
OMIM:619527 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Lo... |
ORPHA:320355 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, Dandy-Walker malfor... |
OMIM:617235 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Flexion contracture, Babinski sign, Dysme... |
OMIM:616505 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Tetraparesis,... |
OMIM:616827 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Atrophy of the spi... |
OMIM:602433 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Inability to walk, Upper limb muscle weakness, Distal amyotrophy, St... |
ORPHA:99939 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Ba... |
OMIM:616586 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... |
OMIM:617066 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dor... |
OMIM:605588 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Limb hypertonia |
OMIM:618247 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Neurodegeneratio... |
OMIM:616239 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased variability in muscle f... |
OMIM:614399 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia... |
ORPHA:1020 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Impaired pain sensation, Upper limb amyotrophy, Distal sensory impa... |
ORPHA:99953 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un... |
OMIM:614871 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... |
OMIM:616516 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic te... |
OMIM:617710 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Parkinsonism,... |
OMIM:109150 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100993 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
Leukodystrophy, Hypomyelinating, 5 |
|
Lower limb muscle weakness, Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Ab... |
OMIM:610532 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Madras Motor Neuron Disease |
|
Facial palsy, Abnormal cerebellum morphology, Babinski sign, Limb fasciculations, Distal amyotrophy |
ORPHA:137867 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Action tremor |
OMIM:180800 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Babinski sign, Impaired proprioception, Impaired vibration sensation in th... |
ORPHA:352641 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Abnormal cerebellum morphology, Babinski sign, Spastic par... |
OMIM:270700 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Progressive cerebell... |
ORPHA:1177 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Clonus, Impaired pain sensation, Babinski sign, Spastic paraplegia, Distal amyotrophy, Gait distu... |
ORPHA:139578 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atrophy, Spastic dy... |
ORPHA:95433 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Spasticity |
OMIM:125250 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Facial palsy, Distal sensory impairment |
OMIM:601382 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Cervical spinal cord atrophy, Interosseus muscle atrophy, Fasciculations |
OMIM:602440 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Flexion contracture, Degenera... |
OMIM:301830 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign,... |
OMIM:620089 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Axonal degeneration, Distal sensory impairment |
OMIM:606482 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Abnormal moto... |
ORPHA:52430 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy |
OMIM:618244 |
Myasthenic Syndrome, Congenital, 10 |
|
Waddling gait, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy |
OMIM:254300 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Abnormal ... |
ORPHA:70595 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... |
OMIM:611890 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity |
OMIM:162370 |
Cog8-Cdg |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting th... |
ORPHA:95428 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Brady... |
OMIM:610217 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Difficulty walking |
OMIM:616684 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Postural tremor, Inability to walk, Unsteady gait, Upper limb amyotr... |
ORPHA:99950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Slurred speech, Ataxia |
OMIM:230650 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Skeletal muscle atrophy, Ataxia, Gait disturbance |
OMIM:618239 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Lower limb spasticity, Speech apraxia, Postural tremor, Hypoplasia of the pon... |
ORPHA:412057 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap... |
OMIM:300266 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movements, Cerebellar h... |
OMIM:617302 |
Lissencephaly 8 |
|
Retrocerebellar cyst, Skeletal muscle atrophy, Appendicular spasticity, Cerebellar hypoplasia |
OMIM:617255 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S... |
ORPHA:98673 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... |
OMIM:605013 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... |
ORPHA:2926 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var... |
OMIM:619461 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal amyotrophy, Gait disturbance, Distal sensory impairment |
OMIM:311070 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Cerebellar hypoplasia, Muscular ... |
ORPHA:559 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... |
ORPHA:596 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tetraplegia, Spast... |
OMIM:300523 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski... |
OMIM:617339 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo... |
OMIM:615919 |
Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Hypertonia, Ataxia |
ORPHA:31 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyo... |
OMIM:615084 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:607736 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Gait imbalance, Loss of ambulation, Weakness of... |
ORPHA:329336 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... |
ORPHA:101076 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ge... |
ORPHA:79279 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Somatic sensory dysfunction |
ORPHA:101082 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Waddling gait |
ORPHA:98896 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... |
ORPHA:171881 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... |
ORPHA:280210 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm... |
OMIM:607822 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Distal amyotrophy, Spasticity |
OMIM:617183 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... |
OMIM:606002 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, ... |
OMIM:619272 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber diameter, Dysmetria, I... |
ORPHA:502423 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo... |
OMIM:617675 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Brain atrophy, Left ventricular hypertr... |
OMIM:618228 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:607734 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Cerebral atrophy, Generaliz... |
OMIM:618065 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, G... |
OMIM:103050 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... |
OMIM:617228 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Abnormal cerebellum morphology, Spastic paraplegia, Abnormal pyramidal sign, Distal... |
OMIM:256850 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Gait disturbance, Myopathy |
ORPHA:157973 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory... |
OMIM:612954 |
Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy |
OMIM:618635 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Tremor, Myoclonus, Limb muscle weakness, Cerebral ... |
ORPHA:97229 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Skeletal muscle atrophy, Foot joint contracture, Cerebral atrophy |
ORPHA:457205 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Unsteady gait, Distal sensory impairment |
OMIM:300614 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa... |
ORPHA:59 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk... |
OMIM:300243 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Impaired distal proprioception, Hand tremor, Distal sensory impairment, ... |
OMIM:162400 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, D... |
ORPHA:3208 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflex... |
OMIM:118220 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Abnormal cerebellum morpholog... |
OMIM:211530 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Lower limb spasticity, Clonus, Atrophy of the spinal cord, Babinski sign, Spastic paraplegia, Dis... |
OMIM:256840 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... |
OMIM:608907 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... |
OMIM:214150 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Clumsiness, Generalized amyotrophy, Tongue fasciculations, Limb muscle weak... |
OMIM:614707 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness,... |
OMIM:277460 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal sensory impairment, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor... |
OMIM:604563 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Ataxia, Tremor, Gait disturbance, S... |
ORPHA:100 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ti... |
ORPHA:447760 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Diaphragmatic par... |
OMIM:604320 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Impaired... |
ORPHA:320406 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Increased variability in muscle fi... |
OMIM:604377 |
Kennedy Disease |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:481 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Impaired vibration sensation in the lower limb... |
OMIM:609033 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:618393 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J... |
OMIM:260600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotrophy, Falls, Pelvi... |
OMIM:615156 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy |
OMIM:614932 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Distal amyotrophy, Inability to walk by childhood/adolescence, Axonal degeneration, Distal sensor... |
OMIM:214400 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal sensory impairment, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflex... |
OMIM:118200 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Distal amyotrophy, Congenital foot contractures |
ORPHA:3454 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Cerebral atrophy, Op... |
OMIM:614969 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal sensory impairment |
OMIM:607831 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance |
ORPHA:1399 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... |
ORPHA:521411 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia |
OMIM:105300 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Facial palsy, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Distal ... |
OMIM:601596 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower ... |
ORPHA:845 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facia... |
ORPHA:352447 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:2840 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... |
ORPHA:171436 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres... |
OMIM:200150 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
Sialidosis Type 2 |
|
Tremor, Skeletal muscle atrophy, Flexion contracture, Ataxia |
ORPHA:87876 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Abnormal cerebellum morpho... |
ORPHA:101000 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Abnormal pyramidal sign, Impaired tandem gait... |
ORPHA:254930 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Gait disturbance |
OMIM:618578 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy, Difficulty walking, Weakness of facia... |
ORPHA:254875 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Gait ataxia, Spasticity, Lower limb amyotrophy, Spastic gait |
ORPHA:496790 |
L1 Syndrome |
|
Skeletal muscle atrophy, Spasticity, Gait disturbance, Hemiplegia/hemiparesis |
ORPHA:275543 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ata... |
OMIM:617193 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Distal s... |
ORPHA:320375 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Impaired distal proprioception, Impaired distal vibration sensation, Unstead... |
OMIM:601455 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Dysmetria |
OMIM:615578 |
Schindler Disease, Type I |
|
Spasticity, Generalized amyotrophy, Myoclonus |
OMIM:609241 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking |
ORPHA:98895 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Frequent falls, Impaired pain sensation, Inability to walk, Impaired distal v... |
ORPHA:99949 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Babinski sign, Flexion contracture, Spastic para... |
OMIM:609541 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy, Impaired pain sensation |
ORPHA:2047 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Axonal degeneration |
OMIM:162100 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Cerebellar vermis hypoplasia, Flexion contr... |
OMIM:618291 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... |
ORPHA:478029 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Waddling gait, Knee flexion contracture |
OMIM:606631 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, Hyperkinetic movemen... |
OMIM:616420 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Abno... |
ORPHA:1320 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglo... |
OMIM:613150 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Cerebral ... |
OMIM:612073 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... |
OMIM:271225 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... |
OMIM:620351 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy |
ORPHA:477814 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Spastic paraplegia |
OMIM:619026 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Joint contracture, Abnormal pyramidal sign, Spastic tetraplegia |
OMIM:615419 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Clonus, Rhabdomyolysis, Poor coordination, Spastic tetraplegia, Spa... |
OMIM:616878 |
Rett Syndrome |
|
Skeletal muscle atrophy, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebral cortical... |
OMIM:312750 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity, Cerebral atrop... |
OMIM:601104 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Distal sensory impairment, Facial diplegia, Facial paralysis |
OMIM:613559 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Difficulty walking, Brain a... |
OMIM:164310 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... |
OMIM:245200 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... |
ORPHA:100070 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Granu... |
OMIM:609454 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Spastic tetraplegia, Chiari type I malformation, Neurodegeneration, Cerebellar ... |
OMIM:618476 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Myopathy |
ORPHA:85329 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction |
OMIM:612079 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Fle... |
OMIM:301072 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia |
ORPHA:1933 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Spasticity, Temporal cortical atrophy |
OMIM:618862 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tremor, Inability to walk, Flexion contracture, Limb tremor, Facial dipl... |
OMIM:218000 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Cerebellar vermis hypoplasia, Muscular dystrophy,... |
OMIM:616538 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas... |
OMIM:612949 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Spastic gait, Progressive spastic paraplegia |
ORPHA:2821 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus |
ORPHA:812 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Inability to walk, Paraparesis, Atrophy of the spinal cord, Generalized lim... |
ORPHA:2822 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Tetraplegia, Fasciculations, Progressive spa... |
ORPHA:496641 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Cerebral atrophy, Choreoathetosis, Type 2 mu... |
OMIM:615471 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Broad-based gait, Contractures of the large joints |
OMIM:616716 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Difficulty walking, Spas... |
ORPHA:481152 |
Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Babinski sign, Cerebral atrophy, Hypertoni... |
OMIM:615802 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity |
ORPHA:85323 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Rigidity, Inability to walk, Athetosis, Spasticity |
OMIM:257200 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy |
ORPHA:42 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,... |
OMIM:618321 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Ataxia, Impaired temperature sensation, Ma... |
OMIM:268800 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... |
ORPHA:79244 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy |
OMIM:618603 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner... |
OMIM:257220 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Native American Myopathy |
|
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... |
ORPHA:168572 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa... |
ORPHA:70 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... |
ORPHA:1344 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:156 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Leigh Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary mov... |
ORPHA:506 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:245400 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myo... |
ORPHA:98915 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps... |
OMIM:255800 |
12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy, Chiari malformation |
ORPHA:94063 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficu... |
ORPHA:778 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... |
ORPHA:79139 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Calf muscle hypertrop... |
OMIM:253800 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Inability to walk, Paraparesis... |
ORPHA:2912 |
Refsum Disease |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis |
ORPHA:773 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Aplasia/... |
ORPHA:1358 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Apraxia, Neuronal loss in central nervous system, Cerebral... |
OMIM:607485 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus |
OMIM:619424 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Cerebellar hypoplasia, Muscular dystrophy, Aplasia/Hypoplasia involving ... |
ORPHA:899 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... |
ORPHA:17 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:230839 |
Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
Renpenning Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3242 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Steppage gait |
ORPHA:168563 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypertonia, Gait disturbance, Progressive spasticity, Aplasia/Hypoplasia... |
ORPHA:192 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:614300 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Senile plaques, Apraxia |
OMIM:606889 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... |
ORPHA:447788 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Flexion contracture, Tetraparesis |
OMIM:300232 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Chediak-Higashi Syndrome |
|
Ataxia, Tremor, Gait disturbance, Neurodegeneration, Foot dorsiflexor weakness |
OMIM:214500 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Tremor, Unsteady gait, Cerebral atrophy, Myopathy, Spasticity |
OMIM:615512 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Flexion contractu... |
ORPHA:2671 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Babinski sign, Ton... |
OMIM:252010 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor |
OMIM:117300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture |
ORPHA:435638 |
Trisomy 17P |
|
Macroglossia, Skeletal muscle atrophy, Flexion contracture, Hypertonia |
ORPHA:261290 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy |
ORPHA:127 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy |
OMIM:608779 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Abnormal medulla oblongata ... |
ORPHA:297 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc... |
ORPHA:26791 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Increased variability in muscle fiber diameter, Torticollis |
OMIM:617022 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:309900 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Brain atrophy, Spasticity |
ORPHA:333 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus |
OMIM:210210 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture |
OMIM:616200 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti |
OMIM:253220 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy |
OMIM:219080 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy |
ORPHA:110 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Hurler Syndrome |
|
Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:607014 |
Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Spasticity, Ataxia, Cataplexy |
OMIM:607625 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy |
ORPHA:90045 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy |
OMIM:614856 |
Donohue Syndrome |
|
Skeletal muscle atrophy |
OMIM:246200 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Cockayne Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Ataxia, Action tremor, ... |
ORPHA:191 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis |
OMIM:615934 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness |
ORPHA:79240 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Diastasis recti, Inability to walk, Macroglossia, Global brain atrophy |
ORPHA:488632 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2461 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:618252 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:2990 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Distal sensory impairment,... |
OMIM:256810 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Hypertonia, Myoc... |
ORPHA:284339 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dense calcifications in the cerebellar dentate nucleus, Unsteady gait, F... |
ORPHA:90324 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy |
OMIM:620370 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Broad-based gait, Clonus, Ataxia, Cerebral palsy, Head titubation,... |
OMIM:619475 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... |
OMIM:601701 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Dupuytren contracture |
ORPHA:39812 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy |
OMIM:219090 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... |
OMIM:255995 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy |
OMIM:131300 |
Werner Syndrome |
|
Skeletal muscle atrophy |
ORPHA:902 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... |
ORPHA:570 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... |
ORPHA:800 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Abnormality of the tongue muscle, Inability to walk, Abnormality of mast... |
ORPHA:273 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Skeletal muscle atrophy |
OMIM:615895 |
Leprosy |
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Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, S... |
ORPHA:548 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Skeletal muscle atrophy, Myopathy |
ORPHA:109 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Skeletal muscle atrophy |
ORPHA:1969 |
Nijmegen Breakage Syndrome |
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Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Flexion contracture |
ORPHA:89842 |
Nijmegen Breakage Syndrome |
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Skeletal muscle atrophy, Abnormality of chromosome stability, Rhabdomyosarcoma |
ORPHA:647 |
Duane Retraction Syndrome |
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Blepharospasm, Skeletal muscle atrophy, Camptodactyly |
ORPHA:233 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Skeletal muscle atrophy, Poor coordination, Flexion contracture, Spastic diplegia, Cerebral atrop... |
OMIM:309590 |
Camurati-Engelmann Disease |
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Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy |
ORPHA:1328 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Myopathy, Difficulty walking |
ORPHA:536545 |
Immunodeficiency 31C |
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Skeletal muscle atrophy |
OMIM:614162 |
Idiopathic Hypereosinophilic Syndrome |
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Skeletal muscle atrophy, Somatic sensory dysfunction, Paresthesia |
ORPHA:3260 |
Lysinuric Protein Intolerance |
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Skeletal muscle atrophy |
OMIM:222700 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Myopathy, Cerebral atrophy |
OMIM:219800 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
Pierson Syndrome |
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Skeletal muscle atrophy |
OMIM:609049 |
Stickler Syndrome |
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Macroglossia, Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:828 |
Marfan Syndrome |
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Skeletal muscle atrophy |
ORPHA:558 |
Atypical Werner Syndrome |
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Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy |
ORPHA:79474 |
Leprechaunism |
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Skeletal muscle atrophy |
ORPHA:508 |