| Peroneus Tertius Muscle, Absence Of |
|
Foot dorsiflexor weakness |
OMIM:261400 |
| Amyotrophic Lateral Sclerosis 3 |
|
Lower limb muscle weakness |
OMIM:606640 |
| Episodic Muscle Weakness, X-Linked |
|
Muscle weakness |
OMIM:300211 |
| Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport |
|
Muscle weakness |
OMIM:251945 |
| Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proxim... |
ORPHA:97240 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... |
ORPHA:45448 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... |
OMIM:600794 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
| Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... |
OMIM:605820 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... |
ORPHA:684 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Myotonia, Gowers sign, Flexion contracture, Proximal muscle weakness in ... |
OMIM:310440 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... |
OMIM:614065 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... |
OMIM:158810 |
| Rippling Muscle Disease 2 |
|
Proximal muscle weakness, Gowers sign, Muscle mounding, Skeletal muscle hypertrophy, Calf muscle ... |
OMIM:606072 |
| Myopathy, Myofibrillar, 3 |
|
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... |
OMIM:609200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... |
OMIM:601472 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia, Muscle weakness |
OMIM:254950 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mus... |
OMIM:255700 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness |
OMIM:615511 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Hypokalemic Periodic Paralysis |
|
Myotonia, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Inc... |
ORPHA:681 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
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 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
| Brody Disease |
|
Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Percussion myotonia, Muscle weakness |
OMIM:601003 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Foot dorsiflexor w... |
OMIM:614881 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness |
OMIM:616231 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Myotonia, Muscle weakness |
OMIM:170400 |
| Creatine Phosphokinase, Elevated Serum |
|
Increased muscle fatiguability, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy... |
OMIM:123320 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
| Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Muscle... |
OMIM:168300 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... |
OMIM:608358 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia, Muscle weakness |
ORPHA:371 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... |
OMIM:181400 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Episodic Ataxia, Type 7 |
|
Muscle weakness |
OMIM:611907 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... |
OMIM:609524 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
| Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Myotonia, Muscular dystrophy |
OMIM:158800 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... |
OMIM:182980 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... |
OMIM:500002 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Gowers sign, Calf muscle hypertrophy, Distal amyotrophy, Proximal muscle weakness |
OMIM:618135 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, First dorsal interossei mu... |
OMIM:612335 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:618036 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness |
OMIM:617046 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
| Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Distal muscle weakness, Spinal muscular atrophy |
OMIM:300489 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo... |
OMIM:608390 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Overweight, Z-... |
OMIM:619178 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... |
OMIM:619042 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... |
OMIM:605355 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... |
OMIM:612937 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... |
OMIM:300717 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Foot dorsif... |
OMIM:616280 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
| Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... |
ORPHA:353 |
| Pure Mitochondrial Myopathy |
|
Progressive external ophthalmoplegia, Scapular winging, Distal muscle weakness, Neck flexor weakn... |
ORPHA:254854 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
| Bethlem Myopathy 2 |
|
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... |
OMIM:616471 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:612539 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Myasthenic Syndrome, Congenital, 17 |
|
Muscle weakness, Type 1 muscle fiber predominance |
OMIM:616304 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness |
OMIM:606768 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... |
OMIM:253601 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Handgrip myotonia, Myotonia, Peroneal muscle atrophy, Flexion contracture, W... |
ORPHA:324442 |
| 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, Dystonia,... |
OMIM:167320 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Muscle weakness |
OMIM:615048 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... |
ORPHA:270 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness |
OMIM:182960 |
| Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
| 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 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... |
OMIM:610687 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Distal amyotrophy, Weakness of... |
OMIM:607641 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Bulbar palsy, Facial palsy, Fatty replacement of skele... |
OMIM:616165 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... |
OMIM:616924 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Poor head control, Nemaline bodies, Generalized muscle weakness, Increased vari... |
OMIM:620265 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Percussion myoton... |
OMIM:619040 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Skeletal muscle atrophy, Flexion contracture, Muscle weakness |
OMIM:611105 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to mus... |
OMIM:618414 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn... |
ORPHA:399081 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
| Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nem... |
OMIM:615348 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Insuli... |
ORPHA:401768 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:616625 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... |
ORPHA:178145 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Distal ... |
OMIM:253400 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Distal muscle weakness |
ORPHA:357043 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... |
OMIM:610542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
OMIM:611307 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... |
OMIM:300580 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... |
OMIM:616209 |
| Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Distal amyotrophy, Distal muscle weakness |
OMIM:158580 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Ophthalmoplegia, Myotonia, Ophthalmoparesis |
ORPHA:99736 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Muscle weakness |
OMIM:545000 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness |
OMIM:616282 |
| Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscl... |
OMIM:619790 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... |
OMIM:603034 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Poor head control, Gowers sign, Elbow flexion contractu... |
ORPHA:97244 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,... |
OMIM:300695 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... |
ORPHA:457050 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... |
OMIM:254130 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... |
OMIM:619519 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu... |
OMIM:615491 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy, Muscle weakness |
OMIM:616314 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Spinal muscular atrophy, Diaphragmatic weakness, Distal amyotrophy, Distal lower limb muscle weak... |
OMIM:607088 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Proximal muscle weakness, Myotonia of the face, Co... |
ORPHA:99734 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... |
ORPHA:309169 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Myopathy, Distal, 3 |
|
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... |
OMIM:610099 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Tremor, Ophthalmoplegia, Increased variability in mu... |
OMIM:619473 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Myotonia Permanens |
|
Myotonia, Ophthalmoplegia, Generalized muscle hypertrophy, Ophthalmoparesis, Skeletal muscle hype... |
ORPHA:99735 |
| Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Failure to thrive, Neck flexor weakness, Facial palsy, Decreased body weight, ... |
OMIM:602771 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:85162 |
| Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Distal amyotrophy, Foot do... |
OMIM:616040 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:401805 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Lower limb muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Weakness of the in... |
OMIM:615575 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Achilles tendon contracture,... |
ORPHA:98855 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:607678 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Myotonia, Firm muscles |
OMIM:255710 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... |
OMIM:617069 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, First dorsal interossei muscle weakness, Upper lim... |
ORPHA:139536 |
| Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proximal muscle weak... |
OMIM:620389 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Death in infancy, Poor head control, Cachexia, Flexion contracture, Axia... |
ORPHA:157973 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Muscle weakness, Hand tremor |
OMIM:253550 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:302801 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T... |
ORPHA:454887 |
| Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... |
ORPHA:353327 |
| 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 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... |
OMIM:500009 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:98863 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Respiratory insufficiency du... |
ORPHA:98853 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... |
OMIM:609285 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Distal muscle weakness, Lower limb muscle ... |
OMIM:613287 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb amyotrophy, Muscle weakness |
OMIM:615658 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Distal amyotrophy, Muscle weakness, Ankle flexion contracture, Knee flexion contracture |
OMIM:615043 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
| Congenital Myopathy 16 |
|
Scapular winging, Distal muscle weakness, Postural tremor, Proximal muscle weakness, Flexion cont... |
OMIM:618524 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... |
OMIM:604801 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Poor head control, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Myotonia |
OMIM:170500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Increased muscle fatiguability, Myopathy, Progressive external ophthalmoplegia |
OMIM:613077 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Upper limb muscle weakness, Lower limb amyotrophy, Claw hand deformity, Lower limb muscle weakness |
OMIM:618511 |
| 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 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... |
OMIM:300718 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... |
ORPHA:171439 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... |
OMIM:605809 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... |
OMIM:615156 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Death in childhood, Joint contracture, Failure ... |
OMIM:616081 |
| Congenital Myopathy 9A |
|
Short stature, Akinesia, Obesity, Tongue fasciculations, EMG: myopathic abnormalities |
OMIM:618822 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G... |
ORPHA:352470 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensation, Impaired pain... |
OMIM:619574 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Short stature, Babinski sign, Spastic diplegia, Myoclonus, ... |
OMIM:619065 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Distal muscle weakne... |
ORPHA:254875 |
| Myopathy, Centronuclear, 4 |
|
Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Gowers sign, Flexion contracture, Generalized ... |
OMIM:613723 |
| Central Core Disease |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... |
ORPHA:597 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Distal muscle weakness, Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Foot dor... |
OMIM:605726 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Exercise-induced muscle... |
ORPHA:369847 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness |
OMIM:607677 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Distal muscle wea... |
OMIM:600175 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Neck joi... |
OMIM:255600 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:605589 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy |
OMIM:158500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... |
OMIM:617070 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:607731 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Increased muscle fatiguability, Weakness of facial musculature, Facial palsy |
OMIM:616323 |
| Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... |
ORPHA:2596 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... |
ORPHA:75840 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Respiratory insufficiency due to ... |
OMIM:613205 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Myotonia, Neck flexor weakness, Proximal muscle weakness, Generalized amyotrop... |
OMIM:602668 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Type 1 muscle fiber pr... |
OMIM:618276 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... |
OMIM:613157 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Generalized muscle weakness, Death in childhood, Neonatal death, Increased vari... |
OMIM:614096 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... |
OMIM:620323 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle muscle weakness, Mu... |
OMIM:603511 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness |
OMIM:254190 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... |
OMIM:617066 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Ataxia, Short stature, Centrally nucleat... |
OMIM:248800 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Myotonia, Flexion contr... |
ORPHA:682 |
| Spinal Muscular Atrophy, Type I |
|
Poor head control, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness in lowe... |
OMIM:253300 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Muscle weakness, Exercise-induced muscle fatigue |
ORPHA:713 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Distal muscle weakness, Congenital foot contraction deformities, Ha... |
ORPHA:363454 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Bulbar palsy, Neck flexor weakness, Facial palsy, Slender build, Proximal muscle weakness, Respir... |
OMIM:161800 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Myasthenic Syndrome, Congenital, 10 |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Axial muscle weaknes... |
OMIM:254300 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Scapuloperoneal amyotr... |
OMIM:611067 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Impaired pain sensation, Impaired temperature sensation, Upper limb... |
ORPHA:99940 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Hand muscle weakness |
OMIM:608323 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... |
OMIM:601287 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy, Dystonia, Neonatal death, Failure to thrive |
OMIM:618237 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Distal muscle weakness, Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, F... |
ORPHA:320370 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy, Proximal muscle weakness |
OMIM:255100 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:608673 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Distal sensory impairme... |
OMIM:606595 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Hand muscle weakness, Ankle weakness, Abnormality of the fo... |
ORPHA:100998 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Episodic Ataxia Type 1 |
|
Myotonia, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hypertonia, Ti... |
ORPHA:37612 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... |
ORPHA:95434 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy |
OMIM:612998 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Ataxia, Tongue fasciculations, Facial myokymia, Failure to thrive, Hypokinesia |
OMIM:620007 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Progressive distal muscle weakness, Hand muscle weakness, Tremor, I... |
ORPHA:101077 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... |
OMIM:612954 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weaknes... |
OMIM:232800 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness |
OMIM:607791 |
| Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... |
ORPHA:171445 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Skeletal muscle atrophy, Poor head control, Respiratory insufficiency due to muscle weakness, Fac... |
OMIM:618184 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... |
ORPHA:119 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Flexion contracture, Distal amyotrophy... |
OMIM:607684 |
| Neutral Lipid Storage Disease With Myopathy |
|
Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, Neck muscle weak... |
OMIM:610717 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur... |
ORPHA:240071 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... |
ORPHA:98913 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness |
ORPHA:100985 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness |
OMIM:551500 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal muscle fibers, Scapulope... |
OMIM:255160 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness |
ORPHA:300179 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... |
OMIM:607855 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prox... |
ORPHA:329478 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Abdominal wall muscle weakness, Facial palsy, Beevor's... |
OMIM:158900 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... |
ORPHA:596 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Idiopathic Camptocormia |
|
Myositis, Myotonia, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle,... |
ORPHA:1320 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy |
OMIM:613345 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Craniofacial dystonia, ... |
OMIM:620011 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Hypomimic f... |
ORPHA:247234 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:255200 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Upper limb amyotrophy... |
OMIM:617087 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Myopathy, Abdominal obesity, Muscular dystroph... |
OMIM:615980 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... |
OMIM:602541 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... |
OMIM:619911 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... |
OMIM:607454 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Distal muscle weakness, Muscle weakness |
OMIM:613710 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Distal muscle weakness, Postural tremor, Thenar muscle atrophy, Thenar muscle weakness, First dor... |
OMIM:270685 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... |
ORPHA:263494 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... |
ORPHA:34515 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m... |
ORPHA:3101 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal muscle weakness, Thenar muscle atrophy, Ankle weakness, Tremor, Thenar muscle weakness, Di... |
OMIM:118300 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Muscle weakness |
ORPHA:2349 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
ORPHA:488594 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I... |
OMIM:616688 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy, Postural tremor |
ORPHA:104 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Interphalangeal joint contractu... |
ORPHA:1145 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
| Episodic Ataxia, Type 2 |
|
Myotonia, Muscle weakness |
OMIM:108500 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Myotonia, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber... |
ORPHA:79102 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Diminished movement, Babinski sign, Ab... |
ORPHA:97349 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Respiratory insufficiency due... |
OMIM:301830 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthrogryposis,... |
OMIM:616287 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Distal muscle weakness, Postural tremor, Proximal muscle weakness, Progr... |
OMIM:608627 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615681 |
| Xp21 Deletion Syndrome |
|
Increased muscle fatiguability, Decreased muscle mass, Hypogonadotropic hypogonadism, Primary adr... |
ORPHA:261476 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Myotonia, Muscle weakness |
OMIM:160900 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Stormorken Syndrome |
|
Increased muscle fatiguability, Myopathy, Proximal muscle weakness |
OMIM:185070 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... |
ORPHA:206569 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegia, Proximal muscle w... |
ORPHA:254886 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Myopathy, Myofibrillar, 1 |
|
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... |
OMIM:601419 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Distal muscle weakness |
OMIM:205250 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Ri... |
ORPHA:48818 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
| Hereditary Motor And Sensory Neuropathy V |
|
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness |
OMIM:600361 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ... |
ORPHA:99939 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive |
OMIM:613752 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy |
OMIM:183020 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal muscle weakness, Facial palsy, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor w... |
OMIM:118210 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:607458 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness |
OMIM:605253 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Loss of ambulation, Failure to thrive,... |
OMIM:619518 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1766 |
| 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 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615686 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R... |
OMIM:254090 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Diminished mo... |
ORPHA:240103 |
| Spinocerebellar Ataxia Type 43 |
|
Distal amyotrophy, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Foot dor... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Distal muscle weaknes... |
ORPHA:98856 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness |
ORPHA:99944 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Generalized amyotrophy, Intention tremor |
ORPHA:2589 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... |
OMIM:613818 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Generalized amyotrophy, Arthrogry... |
ORPHA:994 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Muscle weakne... |
OMIM:616827 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Distal muscle weakness, Facial palsy, Proximal muscle weakness |
OMIM:601382 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal muscle weakness, Proximal muscle weakness, Upper limb muscle weakness, Distal amyotrophy, ... |
OMIM:605588 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... |
ORPHA:98897 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Distal amyotrophy, Weaknes... |
OMIM:618811 |
| Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle weakness, Achilles tend... |
OMIM:606612 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
| Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... |
ORPHA:171436 |
| Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
| King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Musc... |
OMIM:619542 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Skeletal muscle atrophy, Distal muscle weakness |
ORPHA:101078 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... |
ORPHA:206559 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... |
ORPHA:98810 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, We... |
OMIM:618416 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Failure to thrive, Dystonia |
ORPHA:26792 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Achilles tendon con... |
OMIM:617258 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... |
ORPHA:90103 |
| Immunodeficiency 9 |
|
Death in infancy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gow... |
OMIM:612782 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... |
ORPHA:600 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:618400 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Distal amyotrophy, Steppage gait, Fasc... |
OMIM:600882 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Cachexia, Generalized muscle weakness, Ragged-red muscle fi... |
OMIM:613662 |
| Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... |
OMIM:611588 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Failure to thrive |
ORPHA:91130 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... |
ORPHA:324604 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2074 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Dystonia |
OMIM:618244 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion contracture, S... |
OMIM:608840 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Poor head control, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoat... |
OMIM:617519 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Proximal amyotrophy |
OMIM:271200 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal muscle weakness, Tremor, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness |
OMIM:618387 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:247604 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Ragged-red muscle fibers, Dystonia |
OMIM:615159 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... |
OMIM:617336 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Increased muscle fatiguability, Muscle weakness, Proximal muscle weakness |
OMIM:618250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia, Elbow contracture, Rigidity, Percussion myotonia, Intrauterine growth retardation, ... |
OMIM:620275 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia |
OMIM:609161 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram... |
ORPHA:306682 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:611895 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Inability to walk, Elbow flexion contracture, Calf muscle hypertrophy... |
ORPHA:206546 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... |
ORPHA:411602 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy, Muscle weakness |
OMIM:232400 |
| Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness, Thenar muscle atrophy |
OMIM:606483 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:615376 |
| Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Hype... |
ORPHA:238455 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements |
OMIM:618425 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Flexion contracture, Proximal mu... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic weakness |
ORPHA:101081 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Distal muscle weakness, Tremor, Flexion contracture, Distal amyotrophy, Limb muscle weakness, Foo... |
OMIM:609260 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Myotonia, Facial hypotonia, Obesity, Poor fine motor coordination, Decreased body... |
ORPHA:589821 |
| Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... |
ORPHA:178148 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:610100 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Distal sensory impairment, Distal amyotrophy, Steppage gait,... |
OMIM:614436 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... |
OMIM:606070 |
| Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... |
ORPHA:309162 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:137200 |
| Congenital Myopathy 12 |
|
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand |
OMIM:612540 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Upper limb muscle weakness, Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:302802 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Spastic tetraplegia, Growth delay, Hypertonia, Failure to th... |
OMIM:619147 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal muscle weakness, Postural tremor, Proximal muscle weakness, Upper limb amyotrophy, Distal ... |
ORPHA:99950 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ophthalmoplegia, Ragged-red muscle fibers |
OMIM:540000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes... |
OMIM:255800 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Rhabdomyo... |
ORPHA:26791 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive, Death in childhood |
OMIM:618251 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia |
ORPHA:480 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Amyoplasia, Flexion contracture, Akinesia |
OMIM:253290 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Generalized amyotrophy, Limb tremor |
ORPHA:401820 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... |
OMIM:255125 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Clumsiness, Generalized amyotrophy, Tongue fasciculations, Limb muscle weak... |
OMIM:614707 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia, Failur... |
OMIM:618249 |
| Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... |
ORPHA:98896 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... |
OMIM:620351 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Intrauterine growth retardation, Joint contracture, Hypoplasia of the musculature |
OMIM:225790 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy |
OMIM:615683 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle fiber size, Generalized... |
OMIM:620278 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... |
OMIM:613561 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:614808 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal amyotrophy, Distal muscle weakness, Upper limb postural tremor, Action tremor |
OMIM:180800 |
| Developmental And Epileptic Encephalopathy 86 |
|
Small for gestational age, Generalized amyotrophy, Dystonia |
OMIM:618910 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals... |
ORPHA:98915 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Insulin resistance, Flexion contracture, Hyperinsulin... |
OMIM:613327 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand... |
ORPHA:101085 |
| Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... |
ORPHA:972 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal amyotrophy, Distal muscle weakness |
OMIM:607734 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy, Limb dystonia |
OMIM:618635 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
| Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Postural tremor, Intrinsic hand muscle atrophy, Distal amyotrophy, Lower... |
ORPHA:3115 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
OMIM:617207 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Ragged-re... |
ORPHA:352447 |
| Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy |
OMIM:613402 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Cachexia, ... |
ORPHA:300605 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal muscle weakness, Fatty replacement of skeletal muscle, Hand tremor, Distal amyotrophy, Dis... |
OMIM:618279 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:620378 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... |
OMIM:164310 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Poor head control, Proximal muscle weakness, External ophthalmoplegia, G... |
ORPHA:3208 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Myopathy, Dystonia, Ophthalmoparesis |
ORPHA:254881 |
| Myositis |
|
Proximal muscle weakness |
OMIM:160750 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy, Joint contracture, Muscle ... |
OMIM:616516 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough |
OMIM:234810 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Upper limb mus... |
ORPHA:90117 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Choreoathetosis, Lower limb hypert... |
ORPHA:319514 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Proximal amyotrophy, Distal sensory impairment, Gait disturbance, Fasci... |
OMIM:604484 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Muscle weakness, Dystonia |
OMIM:618239 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Resting tre... |
OMIM:157640 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
| Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Distal muscle weakness, Proximal muscle we... |
OMIM:162370 |
| Gaucher Disease, Perinatal Lethal |
|
Akinesia, Opisthotonus, Decreased body weight, Arthrogryposis multiplex congenita, Hypokinesia, I... |
OMIM:608013 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fi... |
ORPHA:369840 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy |
ORPHA:639 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity |
OMIM:616840 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy, Poor head control, Dystonia |
OMIM:614932 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:613162 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea... |
ORPHA:435387 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy, Distal... |
ORPHA:42 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscle, Generaliz... |
ORPHA:52430 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Failure to thrive |
OMIM:618234 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Prenatal death, Camptodactyly, Neonatal death, Arthrogryposis multiplex ... |
OMIM:618393 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Muscle weakness |
ORPHA:101082 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, Myopathy, Weakness o... |
OMIM:616239 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Bulbar palsy, Muscle weakness |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Bulbar palsy, Muscle weakness |
OMIM:616437 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Muscle weakness |
OMIM:300653 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Upper limb... |
ORPHA:225154 |
| Spinocerebellar Ataxia 28 |
|
Somatic sensory dysfunction, Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, ... |
OMIM:610246 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... |
ORPHA:257 |
| Axial Osteomalacia |
|
Myopathy, Proximal muscle weakness |
OMIM:109130 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Distal muscle weakness, Proximal muscle weakness |
OMIM:607831 |
| Oliver-Mcfarlane Syndrome |
|
Distal amyotrophy, Distal muscle weakness, Small for gestational age |
OMIM:275400 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... |
OMIM:183090 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Failure to thrive in infancy, External ophthalmoplegia, Flexion contracture, Incr... |
OMIM:619026 |
| Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Cold paresis, Interosseus muscle atrophy |
OMIM:602440 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Muscle weakness |
OMIM:612069 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
| Hypermanganesemia With Dystonia 2 |
|
Limb joint contracture, Parkinsonism, Tremor, Inability to walk, Achilles tendon contracture, Bab... |
OMIM:617013 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture |
OMIM:616286 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to muscle weakness, Prog... |
OMIM:615512 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Cachexia, Tremor, Limb muscle weakness, Musc... |
ORPHA:97229 |
| Neutral Lipid Storage Myopathy |
|
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... |
ORPHA:98908 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Distal muscle weakness, Lower limb muscle weakness, Proximal muscle weakness, Gowers sign, Lower ... |
OMIM:617882 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal... |
OMIM:617675 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Ophthalmoplegia, Upper limb muscle weakness, Distal lower limb muscle we... |
OMIM:615284 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Short stature, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Left ventric... |
OMIM:252011 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... |
ORPHA:496689 |
| Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness |
OMIM:312920 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations, Proximal amyotrophy |
OMIM:608030 |
| Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... |
OMIM:616720 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle fibers, Abnormal pyr... |
OMIM:616479 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Dysto... |
OMIM:611890 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Truncal ataxia, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar atax... |
ORPHA:284289 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmet... |
ORPHA:98755 |
| Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Fasciculations |
ORPHA:65684 |
| Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:608895 |
| Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Ragged-red muscle fibers, Abnormal pyramidal sign, Babinski sign, Im... |
ORPHA:99013 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Ophthalmoparesis, ... |
OMIM:617143 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Congenital contracture, Distal amyotro... |
OMIM:607596 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor, Growth delay, Hypertonia, ... |
OMIM:618947 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy, Muscle weakness |
ORPHA:166002 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Distal muscle weakness, Foot dorsiflexor weakness |
OMIM:607736 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Skeletal muscle atrophy, Oculogyric crisis, Dystonia |
ORPHA:330050 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal muscle weakness, Small for gestational age, Spinal muscular atrophy, Camptodactyly of fing... |
OMIM:604320 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Postural tremor |
ORPHA:100988 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Skeletal muscle atrophy, Distal muscle weakness, Intrinsic hand muscle atrophy, Distal amyotrophy... |
OMIM:614895 |
| Spinocerebellar Ataxia Type 18 |
|
Head tremor, Skeletal muscle atrophy, Muscle weakness, Titubation |
ORPHA:98771 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Dystonia, Distal lower limb mus... |
ORPHA:459033 |
| Sengers Syndrome |
|
Myopathy, Generalized muscle weakness, Muscle weakness |
OMIM:212350 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... |
ORPHA:60033 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor weakness, Respiratory ... |
ORPHA:329336 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Alpha-1-Antitrypsin Deficiency |
|
Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronchiectasis, Cough |
OMIM:613490 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia, Exaggerated startle response, Broad-based gait, Facial hypotonia, Ataxia |
ORPHA:438216 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Skeletal muscle atrophy, Distal muscle weakness |
OMIM:616719 |
| Carnitine Deficiency, Systemic Primary |
|
Proximal muscle weakness, Myopathy, Reduced muscle carnitine level, Failure to thrive, Muscle wea... |
OMIM:212140 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness |
ORPHA:457365 |
| Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb amyotrophy, Lower limb muscle weakness |
OMIM:610357 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Hyperthyroidism, Short stature, Tremor, Increased variability in mus... |
ORPHA:502423 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Dystonia, Generalized amyotrophy, Death in childhood |
OMIM:203740 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Muscle weakness, Dystonia |
ORPHA:101006 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, H... |
ORPHA:254892 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, Death in infancy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... |
OMIM:609454 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
| Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:105400 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Dystonia |
ORPHA:98757 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Myopathy, Muscular dystrophy, Muscle flaccidity, Aplasia/Hypoplasia invo... |
ORPHA:559 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... |
OMIM:500013 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness |
OMIM:118220 |
| Amyotrophic Lateral Sclerosis 11 |
|
Skeletal muscle atrophy |
OMIM:612577 |
| 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 |
| Optic Atrophy 11 |
|
Ataxia, Short stature, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movement... |
OMIM:617302 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb amyotrophy, Proximal muscle weakness, Hand muscle weakness |
ORPHA:320355 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Lower limb muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness, L... |
OMIM:270800 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:616907 |
| Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Athetosis, Dystonia |
OMIM:500001 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Proximal muscle weakness, Upper limb amyotrophy, Distal upper limb muscle weakness, Distal amyotr... |
ORPHA:99953 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Distal muscle weaknes... |
OMIM:205100 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Myotonia, Short stature, Shoulder flexion contracture, ... |
ORPHA:800 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Intrauterine growth retardation, Spasticity, Hypertonia, Hypokinesia |
OMIM:609060 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Poor head control, Small for gestational age, Failure to thrive in infan... |
ORPHA:59 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Impaired pain sensation, Chorea, Babinski ... |
OMIM:164400 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... |
OMIM:112250 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Progressive external ophthalmoplegia |
ORPHA:1215 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Respiratory insufficiency due to muscle weakness, Distal amyotrophy, Distal muscle weakness |
OMIM:602099 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... |
OMIM:601104 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Limb dystonia, Myopathy, Increased variability in muscle fiber diameter, Death in infancy |
OMIM:604377 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy... |
OMIM:615084 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy |
ORPHA:2028 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Handgrip myotonia, Neck flexor weakness, Foot dorsiflexor weakness, Myot... |
ORPHA:273 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... |
OMIM:109150 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Decreased body weight |
ORPHA:477814 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Dystonia |
OMIM:105300 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal muscle weakness |
OMIM:606482 |
| Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
| Fetal Akinesia Syndrome, X-Linked |
|
Hypokinesia |
OMIM:300073 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
| Chanarin-Dorfman Syndrome |
|
Myopathy, Muscle weakness |
OMIM:275630 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Failure to thrive, External ophthalmoplegia, Ophthalmoplegia, Facial dip... |
OMIM:613559 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski si... |
ORPHA:88644 |
| Leber Optic Atrophy |
|
Myopathy, Postural tremor, Dystonia |
OMIM:535000 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Lower limb muscle weakness, Generalized amyotrophy |
OMIM:619686 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Distal amyotrophy, Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness |
OMIM:118200 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Dystonia |
OMIM:616684 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... |
OMIM:253310 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Cong... |
OMIM:618578 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Death in infancy, Facial palsy, Tremor, Generalized muscle weakness, Type 1 fibers relatively sma... |
OMIM:619424 |
| African Trypanosomiasis |
|
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... |
ORPHA:3385 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Exercise-induced muscle fatigue, Hypoglycemia |
ORPHA:230 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Obesity Due To Sim1 Deficiency |
|
Short stature, Hyperinsulinemia, Obesity, Glucose intolerance, Increased resting energy expenditure |
ORPHA:369873 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ophthalmoplegia, Athetosis, Distal amyotrophy, Muscle weakness, Fiber type grouping |
OMIM:271245 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
| Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
External ophthalmoplegia, Flexion contracture, Myopathy, Weakness of facial musculature, Failure ... |
OMIM:201470 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto... |
OMIM:618218 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Generalized muscle weakness, Rhabdomyolysis, Myopathy, Failure to thrive |
OMIM:609015 |
| Danon Disease |
|
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... |
OMIM:300257 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Flexion contracture, Hypertonia, Camptodactyly, Fail... |
ORPHA:86309 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... |
OMIM:609286 |
| Madras Motor Neuron Disease |
|
Distal amyotrophy, Distal muscle weakness, Bulbar palsy, Facial palsy |
ORPHA:137867 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
| Adrenomyodystrophy |
|
Myopathy, Failure to thrive |
ORPHA:977 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Bulbar palsy, Multiple joint contractures, Poor head control, Distal mus... |
ORPHA:70 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Diabetes mellitus, Maternal diabetes, Abnormality of skeletal musc... |
ORPHA:79083 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Diminished movement, Parapares... |
ORPHA:2912 |
| Foxg1 Syndrome |
|
Short stature, Inability to walk, Choreoathetosis, Severe postnatal growth retardation, Hyperkine... |
ORPHA:561854 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Fasciculations |
OMIM:619141 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Muscle weakness |
ORPHA:2254 |
| Sialidosis Type 2 |
|
Tremor, Skeletal muscle atrophy, Flexion contracture, Muscle weakness |
ORPHA:87876 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... |
ORPHA:70595 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Myopathy, Limb dystonia |
ORPHA:363400 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Dyspnea, Restrictive ventilatory defect, Cough, Dec... |
OMIM:619611 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Gowers sign, Progressive muscle weakness, Ragged-red muscle fibers, Generalized... |
OMIM:600462 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Poor head control, Death in infancy, Death in childhood, Neonatal death,... |
OMIM:245400 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| Microhydranencephaly |
|
Skeletal muscle atrophy, Poor head control, Multiple joint contractures, Athetosis, Generalized a... |
OMIM:605013 |
| Fried Syndrome |
|
Skeletal muscle atrophy |
ORPHA:85335 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Tremor |
OMIM:619028 |
| Stuve-Wiedemann Syndrome 1 |
|
Myotonia, Short stature, Impaired pain sensation, Elbow flexion contracture, Knee flexion contrac... |
OMIM:601559 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weaknes... |
OMIM:211530 |
| Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Poor head control, Dystonia, Failure to thrive, Muscle weakness |
OMIM:617339 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Hypokinesia |
OMIM:619063 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive |
OMIM:615595 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Diminished movement, Babinski sign, Limb tremor, Chore... |
OMIM:608643 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Generalized muscle weakness, Fatigable weakness, Myopathy, EMG: myopathic abnormalities, Failure ... |
ORPHA:99901 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Flexion contracture, Generalized amyotrophy, Tongue fasciculations, ... |
OMIM:618065 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Poor head control, Flexion contracture, Muscle weakness |
OMIM:614678 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Glycogen Storage Disease Xv |
|
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance |
OMIM:613507 |
| Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis, Muscle weakness, Dystonia |
OMIM:300842 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ophthalmoplegia, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Abdominal wall mu... |
ORPHA:263297 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Distal muscle weakness, Hand tremor |
OMIM:162400 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro... |
OMIM:254940 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Failure... |
ORPHA:367 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture, Muscle weakness |
OMIM:615704 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Ophthalmoparesis |
ORPHA:1349 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Muscle weakness, Knee flexion contracture |
OMIM:606631 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Proximal muscle weakness in upper limbs, Decreased adiponectin level, Decreased serum leptin, Ins... |
ORPHA:435660 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy |
OMIM:617892 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy |
OMIM:604360 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
| Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Proximal muscle weakness, Intermittent episodes of respiratory i... |
ORPHA:98914 |
| Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations |
ORPHA:641 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Abnormality of skeletal muscle fiber size, Insulin resistance, Skeletal muscle... |
ORPHA:2348 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus... |
ORPHA:298 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Increas... |
ORPHA:778 |
| Alg11-Cdg |
|
Ataxia, Opisthotonus, Hypertonia, Failure to thrive, Hypokinesia, Limb hypertonia |
ORPHA:280071 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Distal muscle weakness, Lower limb muscle weakness, Distal amyotrophy, Dystonia, Abnormal mitocho... |
ORPHA:313772 |
| Melorheostosis |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:2485 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper l... |
ORPHA:99965 |
| Ataxia With Vitamin E Deficiency |
|
Tremor, Skeletal muscle atrophy, Muscle weakness, Dystonia |
ORPHA:96 |
| Cystinosis |
|
Myopathy, Failure to thrive, Muscle weakness |
ORPHA:213 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1188 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity |
OMIM:614254 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus |
OMIM:618497 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:105550 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... |
ORPHA:13 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia |
OMIM:233910 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Type 2 m... |
OMIM:619743 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Muscle weakness |
OMIM:232500 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Dystonia |
ORPHA:457205 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... |
OMIM:612949 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Skeleta... |
ORPHA:435651 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia |
OMIM:230650 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Diaphragmatic weakness |
OMIM:620326 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Hypokinesia |
OMIM:610498 |
| Partial Atrioventricular Septal Defect |
|
Exercise-induced muscle fatigue |
ORPHA:1330 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Dystonia |
OMIM:614487 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis, Muscle weakness |
ORPHA:228305 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Muscle weakness |
OMIM:606407 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy |
OMIM:159400 |
| Scleromyxedema |
|
Distal muscle weakness, Proximal muscle weakness, Hypoperistalsis, Abnormal skeletal muscle morph... |
ORPHA:167635 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Progressive distal muscle weakness, Rhabdomyolysis, Generalized mus... |
ORPHA:746 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Tremor, Athetosis, Generalized amyotrophy, Dystonia, Muscle weakness, Li... |
OMIM:617710 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Short stature, Small for ges... |
OMIM:612073 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Opisthotonus |
OMIM:616896 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Progressive proximal muscle weakness, Obesity, Myopathy, Shoulder girdle muscle weakness, Increas... |
ORPHA:98907 |
| Choreoacanthocytosis |
|
Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis, Dystonia |
OMIM:200150 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness |
ORPHA:228302 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Lower limb amyotrophy, Lower limb muscle weakness, Intention tremor |
OMIM:610532 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia,... |
OMIM:603041 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities, Failure to thrive |
ORPHA:71 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:162100 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Ophthalmoparesis, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus |
OMIM:619317 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to thrive |
OMIM:618228 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Bulbar palsy, Ophthalmoplegia, Upper limb muscle weakness, Facial dipleg... |
ORPHA:254930 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting |
OMIM:611881 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity |
OMIM:617493 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Action tr... |
OMIM:619738 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness |
ORPHA:230839 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Distal amyotrophy, Distal lower limb muscle weakness |
OMIM:612020 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:2942 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
| Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Spasticity, Hypokinesia |
OMIM:616211 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower limb muscle weakness... |
ORPHA:845 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
| German Syndrome |
|
Arthrogryposis multiplex congenita, Short stature, Camptodactyly of finger, Hypokinesia |
ORPHA:2077 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Poor head control, Abnormal morphology of musculature of pharynx, Titubation, Failure to thrive, ... |
ORPHA:280210 |
| Cog8-Cdg |
|
Skeletal muscle atrophy, Poor head control, Failure to thrive |
ORPHA:95428 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Cough, Decre... |
OMIM:610910 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tremor, Flexion contracture, Limb tremor, Facial diplegia, Limb muscle w... |
OMIM:218000 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures, Exaggerated startle... |
ORPHA:320406 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
| Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Muscle weakness |
ORPHA:98895 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Poor head control, Failure to thrive, Opisthotonus |
OMIM:619272 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... |
ORPHA:99845 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:618603 |
| Ataxia-Telangiectasia |
|
Tremor, Skeletal muscle atrophy, Failure to thrive |
ORPHA:100 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Inability to walk, Babinski sign, Hyperkinetic movements, Spasticity, Fa... |
OMIM:616420 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Skeletal muscle atrophy, Foot dorsiflexor weakness |
OMIM:616586 |
| Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Failure to thrive, Athetosis, Muscle weakness |
OMIM:257200 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting |
OMIM:606408 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Flexion contracture, Rhabdomyoly... |
ORPHA:17 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Short stature, Small for gestational age, Tremor, Truncal obesity, Hyp... |
OMIM:300957 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy |
OMIM:615578 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Generalized muscle weakness, Fatig... |
ORPHA:803 |
| Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
| Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambu... |
OMIM:620089 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature |
ORPHA:85323 |
| Myopathy, Centronuclear, X-Linked |
|
Diaphragmatic eventration, Flexion contracture, Facial palsy, Hypokinesia |
OMIM:310400 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness, Ophthalmoplegia, Ch... |
ORPHA:506 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ataxia, Short stature, Ragged-red muscle fibers, Primary a... |
OMIM:530000 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Muscle weakness, Contractures of the large joints |
OMIM:616716 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Ataxia, Short stature, Tremor, Inability to walk, Chorea, Athetosi... |
OMIM:615356 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Tibialis muscle weakness, Ophthalmoplegia, Upper limb muscle weakness, A... |
ORPHA:320375 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Macr... |
ORPHA:258 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy |
OMIM:274240 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Rhizomelia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Growth delay, Hyp... |
OMIM:616271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy |
OMIM:616538 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Decreased body weight |
OMIM:617695 |
| Ataxia-Oculomotor Apraxia 3 |
|
Distal amyotrophy, Muscle weakness |
OMIM:615217 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276244 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2840 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Failure to thrive, Generalized amyotrophy, Death in childhood |
OMIM:619423 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls, Hypokinesia |
OMIM:149400 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
ORPHA:496756 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Poor head control, Ophthalmoplegia, Ragged-red muscle fibers, Dystonia, Failure to thrive |
OMIM:614924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk in first decade, Hy... |
OMIM:300243 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1933 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Progressive external ophthalmoplegia |
OMIM:617713 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Macroglossia, Death in childhood, Muscle w... |
OMIM:268800 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Abdominal wall muscle weakness, Cachexia, Myopathy, Muscle weakness |
ORPHA:109 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Poor head control, Myopathy, Type 1 muscle fiber predominance, Muscle we... |
OMIM:614557 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:617481 |
| Polymyositis |
|
Weight loss, Proximal muscle weakness, Abnormal muscle fiber morphology |
ORPHA:732 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Distal muscle weakness, Joint contracture of the hand, Camptodactyly, Fl... |
OMIM:609033 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Tremor, Overweight, Hyperki... |
ORPHA:457240 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... |
ORPHA:79085 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Muscle weakness |
OMIM:614300 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
| Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG:... |
OMIM:618733 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Ragged-red muscle fibers, Myoclonus, Loss of ambu... |
OMIM:607426 |
| Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress |
OMIM:608799 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615419 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy |
OMIM:619759 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Barth Syndrome |
|
Gowers sign, Skeletal myopathy, Failure to thrive |
OMIM:302060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dys... |
OMIM:613150 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:2047 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Postnatal growth retardation, Short stature, Hypokinesia |
OMIM:613320 |
| Rheumatic Fever |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Hemiballismus, Fa... |
ORPHA:3099 |
| Lissencephaly 8 |
|
Skeletal muscle atrophy |
OMIM:617255 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Proxi... |
ORPHA:280365 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Sialidosis Type 1 |
|
Tremor, Skeletal muscle atrophy, Muscle weakness |
ORPHA:812 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Limb hypertonia |
OMIM:619527 |
| Melas |
|
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Failure to thrive, Abno... |
ORPHA:550 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro... |
ORPHA:275864 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Muscle weakness |
ORPHA:447760 |
| Snakebite Envenomation |
|
Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture |
OMIM:612079 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperki... |
ORPHA:391428 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
| Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis, Muscle weakness |
ORPHA:157 |
| Usher Syndrome |
|
Myopathy, Vestibular areflexia |
ORPHA:886 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:256550 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Dystonia, Facial myokymia |
ORPHA:513436 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Death in childhood |
OMIM:618252 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contr... |
OMIM:619036 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ... |
ORPHA:365 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea... |
OMIM:618291 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Ataxia, Tetraplegia, Growth delay, Fasciculations, Progressive spasticit... |
ORPHA:496641 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy, Muscle weakness |
ORPHA:2953 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy |
OMIM:618975 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Dystonia |
OMIM:312750 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Macroglossia, Hypoplasia of the thymus, Increased variability in muscle fiber diamet... |
OMIM:617022 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements, Short stature, Obesity |
ORPHA:289522 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Small for gestational age, Type 2 muscle fiber predominance, Choreoathet... |
OMIM:615471 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Intrauterine growth... |
OMIM:620327 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Choreoacanthocytosis |
|
Resting tremor, Distal muscle weakness, Peroneal muscle atrophy, Head titubation, Oromandibular d... |
ORPHA:2388 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Distal muscle weakness |
ORPHA:168563 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Wilson Disease |
|
Hypoparathyroidism, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Hand tremor, Parkins... |
OMIM:277900 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss |
ORPHA:85450 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Diabetes mellitus, Short stature, Abnormal circulatin... |
ORPHA:79474 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
| Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weight |
OMIM:616200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| L1 Syndrome |
|
Skeletal muscle atrophy |
ORPHA:275543 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy |
ORPHA:1344 |
| Stromme Syndrome |
|
Myopathy, Stillbirth |
OMIM:243605 |
| Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
| 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 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... |
ORPHA:1900 |
| Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Fasciculations, Neoplasm of the anterior pituitary |
ORPHA:93921 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy |
OMIM:618862 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... |
ORPHA:79240 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity |
ORPHA:127 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Facial hypotonia, Decreased resting energy expenditure, Small for gestati... |
ORPHA:404454 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Fatty replacement of skeletal muscle, Gowers s... |
OMIM:255995 |
| 12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy, Failure to thrive |
ORPHA:94063 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Choreoathetosis, Skeletal muscle atrophy, Muscle weakness, Opisthotonus |
OMIM:614969 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating ... |
ORPHA:525731 |
| Keppen-Lubinsky Syndrome |
|
Spastic tetraparesis, Decreased serum leptin, Flexion contracture, Opisthotonus, Hypertonia, Fail... |
OMIM:614098 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress |
ORPHA:329178 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Limb hypertonia |
ORPHA:481152 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy |
ORPHA:156 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia, Death in childhood |
OMIM:617303 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
| Glycerol Kinase Deficiency |
|
Myopathy, Small for gestational age, Muscular dystrophy |
OMIM:307030 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Opisthotonus |
OMIM:210210 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy |
ORPHA:31 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas... |
OMIM:620369 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary arterial hypertension |
ORPHA:363705 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
| Japanese Encephalitis |
|
Skeletal muscle atrophy, Facial palsy, Tremor, Elbow flexion contracture, Opisthotonus, Choreoath... |
ORPHA:79139 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Myopathy, Failure to thrive in infancy |
OMIM:162300 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
| Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction |
OMIM:100800 |
| Abetalipoproteinemia |
|
Myopathy, Ophthalmoplegia, Distal lower limb muscle weakness, Failure to thrive |
ORPHA:14 |
| Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:3309 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia |
OMIM:607143 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Truncal obesity |
OMIM:219080 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Obesity |
ORPHA:110 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy, Failure to thrive, Muscle weakness, Proximal muscle weakness |
OMIM:615895 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Poor head control, Death in infancy, Ragged-red muscle fibers, Increased... |
OMIM:252010 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities, Action tremor, Dystonia |
ORPHA:97355 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
| Fabry Disease |
|
Left ventricular hypertrophy, Paresthesia, Fasciculations, Delayed puberty |
OMIM:301500 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystroph... |
ORPHA:899 |
| Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
| Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Opisthotonus |
OMIM:103050 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy |
ORPHA:2821 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Progressive muscle weakness, Increased ... |
ORPHA:264580 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Decreased body weight |
OMIM:614856 |
| Nestor-Guillermo Progeria Syndrome |
|
Short stature, Decreased serum leptin, Flexion contracture, Growth delay, Failure to thrive |
OMIM:614008 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Rat-Bite Fever |
|
Diminished movement, Tendonitis, Weight loss |
ORPHA:31205 |
| Donohue Syndrome |
|
Severe failure to thrive, Skeletal muscle atrophy |
OMIM:246200 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Slender build, Muscle weakness |
OMIM:131300 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Decreased serum leptin, Generalized muscular appearance from birth, Hyperinsul... |
OMIM:608594 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Ophthalmoparesis, Dystonia, Failure to thrive, Muscle weakness |
ORPHA:255210 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Myopathy, Muscle weakness |
ORPHA:536545 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy, Failure to thrive |
OMIM:242840 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Failure to thrive |
OMIM:615934 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Wolfram Syndrome |
|
Myopathy, Ophthalmoplegia |
ORPHA:3463 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Intrinsic hand muscle atroph... |
OMIM:615273 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Death in infancy, Facial palsy, Ophthalmoplegia, Aplasia of the pectoral... |
ORPHA:570 |
| Farber Disease |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Abdominal obesity, Obesity |
OMIM:219090 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased serum leptin, Generalized muscular appearance from birth, Hyperinsulinemia, Insulin-res... |
OMIM:269700 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy, Failure to thrive |
OMIM:612541 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Rhinitis, Crackles |
ORPHA:319213 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Failure to thrive |
OMIM:615802 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Muscle weakness |
OMIM:617193 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Facial hypotonia, Myopathy |
ORPHA:309282 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Postural tremor, Flexion contracture, Truncal ob... |
OMIM:301072 |
| Trisomy 17P |
|
Macroglossia, Skeletal muscle atrophy, Flexion contracture |
ORPHA:261290 |
| Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Miscarriage, Slender build |
ORPHA:902 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Death in early adulthood, Muscle weakness |
ORPHA:192 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Upper limb muscle weakness, Skeletal muscle atrophy, Distal amyotrophy |
ORPHA:101000 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture |
ORPHA:39812 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Inability to walk, Vocal... |
OMIM:617799 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis, Dystonia |
ORPHA:480864 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weight loss |
OMIM:219800 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiba... |
ORPHA:522077 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
| Refsum Disease |
|
Skeletal muscle atrophy |
ORPHA:773 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... |
ORPHA:536467 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction |
ORPHA:505248 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Failure to thrive, Death in infancy |
OMIM:608779 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Q Fever |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:781 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Distal muscle weakness, Progressive muscle weakness, Dystonia, Failure t... |
OMIM:256810 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:435638 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... |
ORPHA:297 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Cough |
ORPHA:537 |
| Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Hyperkinetic movements, Paresthesia, Myoclonus,... |
ORPHA:466677 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Failure to thrive, Muscle weakness |
OMIM:124000 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
| Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
| Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Spasticity |
OMIM:619124 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Skeletal muscle atrophy |
OMIM:146500 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:2990 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Flexion contracture |
OMIM:300232 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy, Muscle weakness, Weight loss |
OMIM:614162 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Failure to thrive, Truncal obesity, Muscle weakness |
OMIM:222700 |
| Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Aplasia/Hypoplasi... |
ORPHA:2671 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Mgat2-Cdg |
|
Respiratory distress |
ORPHA:79329 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion |
ORPHA:3260 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Decreased body weight |
ORPHA:89842 |
| Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Severe short stature, Camptodactyly of finger, Ankle flexion contrac... |
ORPHA:468631 |
| Listeriosis |
|
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
| Isolated Posterior Meningocele |
|
Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia |
ORPHA:268810 |
| Dermatomyositis |
|
Inflammatory myopathy, Weight loss, Proximal muscle weakness |
ORPHA:221 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism |
ORPHA:79282 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress |
ORPHA:177907 |
| Tbck-Related Intellectual Disability Syndrome |
|
Macroglossia, Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness |
ORPHA:488632 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy |
OMIM:620370 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... |
OMIM:601701 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration |
ORPHA:404448 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
| 1P36 Deletion Syndrome |
|
Myopathy, Failure to thrive, Camptodactyly of finger, Obesity |
ORPHA:1606 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Muscle weakness, Rhabdomyosarcoma |
ORPHA:647 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... |
OMIM:114290 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Myopathy |
ORPHA:3042 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... |
ORPHA:2461 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
| Duane Retraction Syndrome |
|
Oculomotor nerve palsy, Skeletal muscle atrophy, Blepharospasm, Camptodactyly |
ORPHA:233 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Slender build, Muscle weakness |
ORPHA:1328 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Flexion contracture, Elbow f... |
OMIM:256040 |
| Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
| Williams Syndrome |
|
Death in early adulthood, Failure to thrive in infancy, Tremor, Obesity, Macroglossia, Myopathy |
ORPHA:904 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia |
OMIM:616268 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Shuffling gait, Sev... |
ORPHA:740 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2556 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
| Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:798 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress |
OMIM:180849 |
| Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
| Leprosy |
|
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness |
ORPHA:548 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress |
OMIM:306955 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Cachexia, Contractures of the large joints, Congenital contracture, Limb... |
ORPHA:191 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Small for gestational age, Camptodactyly |
OMIM:309590 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Intention tremor |
ORPHA:90324 |
| Leptospirosis |
|
Respiratory distress, Pleural effusion, Cough |
ORPHA:509 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
| Pierson Syndrome |
|
Skeletal muscle atrophy, Death in childhood |
OMIM:609049 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:508488 |
| Leprechaunism |
|
Skeletal muscle atrophy, Failure to thrive, Decreased body weight |
ORPHA:508 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Slender build, Cachexia |
ORPHA:558 |
| Proteus Syndrome |
|
Myofibrillar myopathy, Decreased muscle mass, Cachexia |
ORPHA:744 |
| Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
| Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, Tendon rupture, Muscle weakness, Decreased body weight |
OMIM:182250 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Myoclonic spasms, Hyperkinetic movements |
ORPHA:73224 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2255 |
| Stickler Syndrome |
|
Macroglossia, Skeletal muscle atrophy, Slender build, Cachexia |
ORPHA:828 |
| Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress |
ORPHA:480880 |
| Crimean-Congo Hemorrhagic Fever |
|
Inappropriate antidiuretic hormone secretion, Adrenal insufficiency, Fasciculations |
ORPHA:99827 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:51608 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Truncal ... |
OMIM:259050 |
| Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Restrictive ventilatory... |
ORPHA:64 |
| Pmm2-Cdg |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79318 |
