| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Steppage ... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... |
OMIM:618655 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
| Nonaka Myopathy |
|
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... |
OMIM:618848 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... |
ORPHA:178464 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Small for gestational age, Alopecia, Long eyelashes, Severe short stature... |
OMIM:275400 |
| Welander Distal Myopathy |
|
Steppage gait, Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Short stature, Lumbar hyperlordosis, Increased variability in muscle fiber diame... |
OMIM:619042 |
| Distal Myopathy, Welander Type |
|
Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuo... |
ORPHA:603 |
| Nemaline Myopathy 2 |
|
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Hyperpigmentation of the skin, Alopecia, Kyphoscoliosis, Melanocytic nev... |
OMIM:612079 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... |
OMIM:500002 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
| Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
| Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, Ptosis, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... |
OMIM:609524 |
| Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Rimmed vacuoles, Waddling gait, Hyperlordosis, Calf muscle hypertrophy, ... |
OMIM:617760 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu... |
ORPHA:280333 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Gait disturbance, Myopathy, Hyperlordosis, Scapular winging, Muscle fiber sp... |
OMIM:618129 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Scoliosis, Ptosis |
OMIM:614750 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Short stature, Ptosis, Facial palsy, Type 1 fibers relatively smaller than type 2 fiber... |
OMIM:300580 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... |
ORPHA:1878 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy, Weakness of facial musculature, Limb muscle weakness, Internally nucleate... |
OMIM:619473 |
| Bethlem Myopathy 2 |
|
Myopathy, Kyphosis, Increased variability in muscle fiber diameter, Flexion contracture, Scapular... |
OMIM:616471 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... |
OMIM:612937 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:500003 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Gait disturbance, Ragged-red muscle fibers, Facial palsy, Rimmed vacuole... |
OMIM:160500 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Difficulty walking, Increased... |
ORPHA:399058 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... |
ORPHA:34516 |
| Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Failure to thrive in infancy, Short stature, Increased intramyocellular lipid droplets,... |
OMIM:619065 |
| Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... |
ORPHA:276435 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
| Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... |
OMIM:609285 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Sc... |
OMIM:616228 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Sco... |
OMIM:300718 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Growth delay, Alopecia, Nail dysplasia, Hypohidrosis, Scoliosis, Delayed... |
OMIM:615704 |
| Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Tip-toe gait, Distal amyotro... |
OMIM:254130 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Gait disturbance, Myopathy, Minicore myopathy, Ptosis, Failure to thrive, Scapular winging, EMG: ... |
ORPHA:424107 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
| Merrf |
|
Ataxia, Myopathy, Ragged-red muscle fibers, Short stature |
ORPHA:551 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Waddling gait, Increa... |
OMIM:616924 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Ptosis, Rimmed vacuoles |
ORPHA:270 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, Joint contra... |
ORPHA:399086 |
| Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... |
ORPHA:171442 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Kyphosis, P... |
OMIM:618138 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:3111 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Ptosis, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Scoliosis, Cong... |
OMIM:605637 |
| Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
| Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
| Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... |
ORPHA:437572 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
| Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Gait disturbance, Limb muscle weakness |
OMIM:609273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ptosis |
OMIM:609283 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Hypertrichosis, Dystonia, Skeletal muscle atrophy, Scoliosis |
OMIM:618244 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology |
ORPHA:351 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... |
ORPHA:2251 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Ptosis, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller... |
OMIM:255310 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Severe postnatal growth retardation, Alopecia, Telecanthus, Severe short... |
OMIM:203550 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Ptosis, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity,... |
ORPHA:1067 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Should... |
OMIM:167320 |
| Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
| Myopathy, Distal, 3 |
|
Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Musc... |
OMIM:610099 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles |
OMIM:300696 |
| Glycogen Storage Disease Ixb |
|
Short stature, Increased muscle glycogen content |
OMIM:261750 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Telecanthus, Ataxia, Corneal opacity, Toenail dysplasia |
ORPHA:1532 |
| Tibial Muscular Dystrophy, Tardive |
|
Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy |
ORPHA:3177 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Ptosis, Muscle fiber tubular inclusions, Facial palsy, Knee f... |
ORPHA:353327 |
| Alopecia-Intellectual Disability Syndrome |
|
Growth delay, Short stature, Alopecia, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia... |
ORPHA:2850 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Intrauterine growth retardation, Abnormality of skin pigmentation, Failure to thrive, Nail dystro... |
OMIM:616353 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Ptosis, Steppage gait, Facial palsy, Nemaline bodies, Flexion contracture, Distal amyotrophy, Hyp... |
OMIM:607684 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... |
ORPHA:42665 |
| Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Ptosis, Facial palsy, EMG: myopathic abnormalities, Hyperlordosis, F... |
OMIM:160150 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... |
OMIM:254090 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Ky... |
OMIM:618484 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Dystonia, Ptosis, Ataxia, Increased variability in muscle ... |
ORPHA:401768 |
| Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... |
ORPHA:98911 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia, Short stature |
OMIM:188150 |
| Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Short stature, Failure to thr... |
OMIM:602771 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Developmental cataract, Gait ataxia, Fair hair |
OMIM:618808 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Gait disturbance, Minicore myopathy, Myofibrillar myopathy |
OMIM:610687 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Axial dystonia, Growth delay, Long eyelashes, Increased variability... |
OMIM:619026 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... |
OMIM:617294 |
| Myopathy, Centronuclear, 2 |
|
Ptosis, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Kyp... |
OMIM:255200 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Myopathy, Ptosis, Ataxia, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
| Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Ptos... |
OMIM:255320 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... |
OMIM:609284 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Alopecia, Sparse hair |
OMIM:212835 |
| Distal Myopathy With Anterior Tibial Onset |
|
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... |
ORPHA:178400 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... |
OMIM:613954 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Coronal cleft vertebrae, Upslanted palpebral fissure, Rhizomelia, Alopecia, Kyphoscoliosis, Sever... |
OMIM:215100 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder girdle muscle weakness, Red... |
ORPHA:34515 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail, Severe short stature |
OMIM:302000 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Distal amyotrophy, Dysmetria, Ataxia, Inability to walk, Thick hair,... |
OMIM:617675 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Ptosis, I... |
ORPHA:98905 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Ataxia, Cataract, Corneal neova... |
OMIM:278730 |
| Flynn-Aird Syndrome |
|
Cachexia, Skeletal muscle atrophy, Alopecia, Kyphosis, Ataxia, Scoliosis |
ORPHA:2047 |
| King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Ptosis, Short stature, Bilateral ptosis, Failu... |
OMIM:619542 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Alopecia universalis, Abnormal eyelash mo... |
ORPHA:1008 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Lumbar hy... |
OMIM:613818 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Ptosis |
OMIM:617070 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis, EMG: myopathic... |
ORPHA:370980 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Elevated circulating C-reactive protein concentration, Corneal neovas... |
OMIM:617388 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Ptosis, Steppage gait, Generalized amyotrophy, Facial palsy, EMG: myopa... |
OMIM:258450 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Melena, Nail dysplasia, C... |
OMIM:158310 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Gait imbalance, Hyperbilirubinemia |
ORPHA:673 |
| Salih Myopathy |
|
Myopathy, Ptosis, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated... |
OMIM:611705 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Quadriceps m... |
ORPHA:206546 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
| Parc Syndrome |
|
Alopecia, Absent eyebrow, Absent eyelashes |
OMIM:600331 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Limb-girdle muscular dystrophy... |
ORPHA:369840 |
| Typical Nemaline Myopathy |
|
Gait disturbance, Myopathy, Ptosis, Facial diplegia, Facial palsy, Arthrogryposis multiplex conge... |
ORPHA:171436 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Reticula... |
ORPHA:79397 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Waddling gait, Facial palsy |
OMIM:617336 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Pelvic girdle muscle weakness, Waddling gait, Calf muscle hypertrophy, Increased variab... |
ORPHA:119 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Ptosis, Limb muscle weakness, Hyper... |
OMIM:603034 |
| Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Abnormality of the palpebral fissures, Arthrogryposis multiplex congenita, Kyp... |
ORPHA:178148 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Skeletal muscle atrophy, Ataxia, A... |
ORPHA:480 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle fibe... |
OMIM:616470 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Short stature, Ptosis, Facial palsy, D... |
ORPHA:3068 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased circulating prolactin concentration, Growth delay, Weakness of facial musculature, Shor... |
ORPHA:502423 |
| Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Short stature, Failure to thrive, Rimmed vacuoles, Kyphosis, A... |
OMIM:248800 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Inability to... |
ORPHA:596 |
| Renpenning Syndrome |
|
Cachexia, Skeletal muscle atrophy, Thin eyebrow, Growth delay, Upslanted palpebral fissure, Alope... |
ORPHA:3242 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Nemaline Myopathy 3 |
|
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... |
OMIM:161800 |
| Infantile Sialic Acid Storage Disease |
|
Ptosis, Epicanthus, Hypopigmentation of the skin, Conjugated hyperbilirubinemia, Congestive heart... |
OMIM:269920 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... |
OMIM:607855 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression, Ptosis |
ORPHA:330054 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Short neck, Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
| Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Lumbar hyperlordosis, Tip... |
ORPHA:171881 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Highly arched eyebrow, Type 2 muscle fiber predominance, Trichorrhexis nodosa, Hyperhidrosis, Inc... |
OMIM:619173 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Short stature, Ptosis... |
OMIM:252011 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
| Bethlem Myopathy |
|
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... |
ORPHA:610 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Difficulty walking, Short stature |
OMIM:610717 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Dis... |
OMIM:617519 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia |
OMIM:237450 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Ptosis |
ORPHA:663 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Failure to thrive, Nemaline bodies, Myopathy, Intrauterine growth retardation |
OMIM:618246 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
| Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles |
ORPHA:263494 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Pseudoprogeria Syndrome |
|
Growth delay, Short stature, Failure to thrive, Alopecia, Absent eyebrow, Absent eyelashes, Spars... |
ORPHA:2985 |
| Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Short stature, Absent pubic hair, Brittle h... |
OMIM:129500 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fib... |
OMIM:255160 |
| Morquio Syndrome C |
|
Corneal opacity, Platyspondyly |
OMIM:252300 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
| Bachmann-Bupp Syndrome |
|
Sparse eyelashes, Small nail, Ptosis, Absent eyebrow, Downslanted palpebral fissures, Hyperbiliru... |
OMIM:619075 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Waddling ga... |
ORPHA:52430 |
| Ane Syndrome |
|
Short stature, Hyperpigmented nevi, Hyperpigmentation of the skin, Alopecia, Generalized amyotrop... |
ORPHA:157954 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Inabili... |
ORPHA:206559 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dystonia, Ragged-red muscle fibers, Ptosis, Failure to thrive, Bradykinesia |
OMIM:614924 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Ptosis, Facial palsy, Bradykinesia, Shu... |
ORPHA:254886 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Short stature, Dystrophic toenail, Sparse and thin eyebrow, Al... |
ORPHA:1882 |
| Sézary Syndrome |
|
Skeletal muscle atrophy, Ectropion, Nail dystrophy, Alopecia, Irregular hyperpigmentation |
ORPHA:3162 |
| Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Weakness of facial musculature, Short stature, Right ventricular ... |
ORPHA:324604 |
| Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Kyphoscoliosis, M... |
ORPHA:597 |
| Brachyolmia Type 1, Toledo Type |
|
Gait disturbance, Intervertebral space narrowing, Irregular vertebral endplates, Kyphoscoliosis, ... |
OMIM:271630 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Ptosis, Facial palsy, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:608930 |
| Johnson Neuroectodermal Syndrome |
|
Failure to thrive, Alopecia, Absent eyebrow, Facial palsy, Absent eyelashes, Downslanted palpebra... |
ORPHA:2316 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Kid Syndrome |
|
Keratoconjunctivitis sicca, Trichilemmoma, Sparse eyelashes, Corneal erosion, Nail dystrophy, Spa... |
ORPHA:477 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Macroglossia, Loss of ambulatio... |
ORPHA:352479 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Epicanth... |
ORPHA:324581 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormality of the hairline, Short stature, Hemivertebrae, Failure to thrive, C... |
ORPHA:370079 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Intrauterine growth retardation, Short stature, Failure to thrive, Upslanted palpebral fissure, B... |
ORPHA:50812 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Short stature, Weight loss, Alopecia, Abnormal testis morphology, Irreg... |
ORPHA:317 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Failure to thrive, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Pr... |
OMIM:619518 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dys... |
ORPHA:370968 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, Nail pits |
ORPHA:169095 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Alopecia, Woolly scalp hair, Decreased testicular size, Woolly hair |
OMIM:601217 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Macroglossia, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscular dystrophy, Calf muscl... |
OMIM:616052 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Ptosis, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Hirsutism, Downslanted palpebral fissures, Joint contracture of... |
OMIM:175700 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Increased total bilirubin, Back pain |
ORPHA:2924 |
| Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Progressive congenital scolio... |
ORPHA:168572 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Ptosis, Facial palsy... |
OMIM:608931 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Corneal opacity, Pili torti, Sparse and thin eyebrow, Sparse hair, Blep... |
OMIM:602400 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyelashes, Skeletal muscle atrophy, Growth delay, Short stature, Abnormality of skin pigme... |
ORPHA:75496 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... |
ORPHA:98913 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability in muscle fiber diamet... |
OMIM:619334 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Upslanted palpebral fissure, Alopecia, Short palpebral fissure, Sparse hair |
OMIM:617763 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Weakness of facial musculature, Failure to thrive, Knee flexion contra... |
OMIM:619461 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, Ectropion, Ptosis, Short stature, Increased intramyocellular lipid droplets, Alopecia, ... |
ORPHA:98907 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia, Skeletal muscle hypertrophy, Short stature |
OMIM:600705 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Ptos... |
OMIM:157640 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Ptosis, Telecanthus, Heterochromia iridis, White forelock, Hypopigmen... |
ORPHA:895 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Athetosis, Dystonia, Lagopthalmos, Lingual dystonia, Corneal scarring, Bilateral ptosis, Hypotrig... |
ORPHA:404454 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Downslanted p... |
ORPHA:284180 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Ataxia, Type 2 muscle fiber predominance, Impaired tandem gait |
OMIM:619028 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Scoliosis |
OMIM:617066 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Spastic gait, Upper limb muscle weakness, Scoliosis, Attention deficit ... |
ORPHA:99013 |
| Moynahan Syndrome |
|
Cachexia, Alopecia, Sparse hair, Short stature |
ORPHA:2574 |
| Chanarin-Dorfman Syndrome |
|
Ataxia, Myopathy, Alopecia, Ectropion |
OMIM:275630 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Corneal opacity, Scoliosis |
ORPHA:2370 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Increased intramyocellular lipid droplets |
OMIM:612016 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... |
OMIM:608470 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... |
ORPHA:2885 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Polycystic ovar... |
ORPHA:2348 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Myopathy, Short stature, Ptosis, Low posterior hairline, Cervical C2/C3 vertebral fusion, Flexion... |
OMIM:616549 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Dystonia, Arm dystonia, Cachexia, Skeletal muscle ... |
ORPHA:300605 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Skeletal muscle atrophy, Ptosis, Dysmetria, Increased intramyocellular lipid droplets, ... |
OMIM:614487 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Opacification of the... |
OMIM:614230 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Ptosis |
OMIM:254210 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Ptosis, Abnormality of the foot musculature, EMG: myopat... |
ORPHA:169189 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Ptosis, Limb muscle weakness |
OMIM:605809 |
| Flynn-Aird Syndrome |
|
Ataxia, Kyphoscoliosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Mullegama-Klein-Martinez Syndrome |
|
Low anterior hairline, Short stature, Failure to thrive, Congenital diaphragmatic hernia, Curly e... |
OMIM:301022 |
| Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Congenital Ptosis |
|
Increased muscle lipid content, Piebaldism, Congenital bilateral ptosis, Long eyelashes, Telecant... |
ORPHA:91411 |
| Hypomelanosis Of Ito |
|
Alopecia, Epicanthus, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis |
OMIM:300337 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Ptosis, Neonatal hyperbilirubinemia, Congenital bilateral ptosis, Hyperact... |
ORPHA:73272 |
| Johnson Neuroectodermal Syndrome |
|
Growth delay, Short stature, Alopecia, Absent eyebrow, Facial palsy, Absent eyelashes, Hypohidros... |
OMIM:147770 |
| Porphyria Cutanea Tarda |
|
Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Onycholysis |
OMIM:176100 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin |
OMIM:616299 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Ectropion, Nail dystrophy, Alopecia, Nail dysplasia, Flexion contracture, Sparse hair |
OMIM:242300 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Corneal opacity, Hyperlordosis |
ORPHA:577 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Hamartoma of the orbital region, Telecanthus, Sparse eyebrow, Lacrimal pu... |
ORPHA:2399 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
| Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Limb muscle weakness, Ptosis, Achilles tendon contracture,... |
OMIM:617258 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Short pa... |
ORPHA:3051 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Ptosis |
OMIM:601462 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Marked muscular... |
ORPHA:79083 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Back pain |
OMIM:174050 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Alopecia totalis, Camptodactyly of finger |
OMIM:212360 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Ptosis, Generalized amyotroph... |
ORPHA:352447 |
| Deafness-Craniofacial Syndrome |
|
Alopecia |
OMIM:125230 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Ectropion, Downslanted palpebral fissures, Long palpebral fissure, Keratitis, Cor... |
OMIM:602562 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Limb muscle weakness, Loss of ability to walk, Muscular dystrophy, Diffi... |
OMIM:616812 |
| Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis sicca, Lacrimal gland aplasia, Absent lacrimal punctum, Decreased corneal se... |
ORPHA:2363 |
| Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Abnormality of retinal pigmentation, Decreased HDL cholesterol concen... |
ORPHA:14 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contracture, Hyperhidrosis, Alo... |
OMIM:614594 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Myopic astigmatism, Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures, Atte... |
OMIM:152950 |
| Multiple Carboxylase Deficiency |
|
Lethargy, Ataxia, Alopecia, Limb muscle weakness |
ORPHA:148 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Generalized hyperpigmentat... |
ORPHA:2930 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... |
ORPHA:397744 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia |
OMIM:613673 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Kyphoscoliosis, Impaired tandem gait, Intrinsic hand muscle atrophy, Centrally ... |
OMIM:619574 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Bathing Suit Ichthyosis |
|
Ectropion, Nail dystrophy, Alopecia, Hypohidrosis, Multiple joint contractures, Sparse hair |
ORPHA:100976 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Increased VLDL ... |
OMIM:136120 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy, Ptosis, Alopecia, Hyperconvex fingernails, Hypoplastic fingernail |
ORPHA:257 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... |
OMIM:613573 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Nemaline bodies, Widening of cervical spinal canal, Limb musc... |
OMIM:606842 |
| Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Rhizomelia, Alopecia, Epicanthus, Spina bifida occulta, Scoliosis, S... |
ORPHA:177 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis |
OMIM:614300 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Inability to walk, Ataxia |
OMIM:615350 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
| Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
| Oculomaxillofacial Dysostosis |
|
Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opacity, Sparse or absent eyelas... |
ORPHA:1794 |
| Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Keratoglobus, Epicanthus, Spondylolisthesis, Abnormal cornea morphol... |
OMIM:229200 |
| Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Ptosis, Congenital diaphragmatic hernia, Alopecia, Cryptorchidism, Ab... |
ORPHA:1647 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia |
OMIM:613070 |
| Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Abnormal vertebral morphology, Cardiomyopathy, Corneal opacity, Generalize... |
ORPHA:93476 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Gait disturbance, Alopecia, Truncal ataxia, Distal amyotrophy, Unsteady gait, Limb ataxia, Delaye... |
ORPHA:412057 |
| Adrenoleukodystrophy |
|
Hyperpigmentation of the skin, Alopecia, Attention deficit hyperactivity disorder, Truncal ataxia... |
OMIM:300100 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Horner syndrome, Kyphosis, Ataxia, Patchy alopecia, Blepharophimosis |
OMIM:141300 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Developmental cataract, Polycoria, Hypoplasia of the iris, Elevated circulat... |
OMIM:175780 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Gait ataxia, Absent pubertal growth spurt, Short stature |
ORPHA:438134 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Abnormal testis morphology, Pili torti, Aplasia/Hypoplasia of ... |
ORPHA:202 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder girdle musc... |
ORPHA:600 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
