| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Waddling gait, Spinal muscular atrophy, Proximal lower limb amy... |
OMIM:158600 |
| Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Difficulty walking, Muscle fiber inclusion bodies, Muscle fiber polyglu... |
OMIM:616199 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Steppage gait, Rimmed vacuoles, Facial palsy, Scapul... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... |
OMIM:618655 |
| Gne Myopathy |
|
Hip flexor weakness, Steppage gait, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed ... |
ORPHA:602 |
| Nonaka Myopathy |
|
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... |
OMIM:605820 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,... |
ORPHA:178464 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Falls, Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diam... |
OMIM:618848 |
| Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Distal amyotrophy, Long e... |
OMIM:275400 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles, Steppage gait |
OMIM:604454 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis, Type 1 muscle fiber predominance, Difficulty walking |
OMIM:616304 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Scoliosis, Short stature, Increased variability in muscle fiber diameter, Hip ... |
OMIM:619042 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... |
ORPHA:611 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Difficulty walking, L... |
OMIM:620402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... |
OMIM:601954 |
| Distal Myopathy, Welander Type |
|
Steppage gait, Difficulty walking, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ... |
ORPHA:603 |
| Mitochondrial Myopathy With Diabetes |
|
Difficulty walking, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weaknes... |
OMIM:500002 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Wadd... |
OMIM:617760 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Ragged-red muscle fibers, Facial palsy, Gait disturbance, Limb muscle weakness, Ptosis, Progressi... |
OMIM:164300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Ankle flexion contracture, Calf muscle hypertrophy, Scoliosis, Scapular winging, EMG: myopathic a... |
OMIM:608099 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Hip flexor weakness, Inability to walk, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abn... |
ORPHA:266 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Scapular winging, M... |
OMIM:616228 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Scoliosis, Increased variability in muscle fiber diameter, Loss of ambulation, Flexion contractur... |
OMIM:300717 |
| Spinal Muscular Atrophy, Type Iv |
|
Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Spinal muscular atrophy, Muscle fiber ne... |
OMIM:271150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... |
OMIM:619566 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... |
OMIM:617030 |
| Tibial Muscular Dystrophy |
|
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... |
ORPHA:609 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... |
OMIM:181400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, Wa... |
OMIM:254110 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Kyphoscoliosis, Scoliosis, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weaknes... |
OMIM:620386 |
| Nemaline Myopathy 2 |
|
Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 muscle fiber predom... |
OMIM:256030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Hyperlordosis, Scapular winging, Gait disturbance, Increased variability ... |
OMIM:618129 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Waddling gait, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar ... |
OMIM:609524 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Pt... |
OMIM:618940 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs, Short stature |
OMIM:616209 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Nail dysplasia, Delayed puberty, Scoliosis, Sparse eyelashes, Growth delay, Sparse eyebrow, Joint... |
OMIM:615704 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... |
OMIM:609115 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... |
OMIM:619733 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Waddling gait,... |
ORPHA:280333 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Premature graying of hair, Distal lower limb muscle weakness, Dysdiadochokinesis, Thenar muscle a... |
OMIM:619903 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Tip-toe gait, Pelvic girdle muscle weakness, Difficulty walking, Scoliosis, Hyperlordosis, Scapul... |
OMIM:620389 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... |
OMIM:615424 |
| Myasthenic Syndrome, Congenital, 13 |
|
Ptosis, Scoliosis, Muscle fiber tubular inclusions |
OMIM:614750 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Muscle fiber inclusion bodies, Scoliosis, Scapular winging, Waddling gait, Congenital contracture... |
OMIM:605637 |
| Myopathy, Distal, 1 |
|
Tip-toe gait, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior musc... |
OMIM:160500 |
| Bethlem Myopathy 2 |
|
Scoliosis, Scapular winging, Kyphosis, Increased variability in muscle fiber diameter, Flexion co... |
OMIM:616471 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... |
ORPHA:457050 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... |
OMIM:620068 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, Nemaline bodies, Inc... |
OMIM:117000 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Rimmed vacuoles, Hyperlordosis, Kyphosis, Increased variability in muscle fiber diamet... |
OMIM:300718 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Facial palsy, Decreased body weight, Short stature, Ptosis, Type 1 fib... |
OMIM:300580 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Gait disturbance, Increased variability in muscle fiber diameter, Myopathy, Proxim... |
ORPHA:1878 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... |
OMIM:619473 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Difficulty walking, Scoliosis, Facial diplegia, Scapular winging... |
ORPHA:171439 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... |
ORPHA:276435 |
| Amyotrophic Lateral Sclerosis 28 |
|
Difficulty walking, Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal mu... |
OMIM:620452 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: myopathic abnorma... |
OMIM:300696 |
| Myopathy, Sarcoplasmic Body |
|
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... |
OMIM:620286 |
| Congenital Myopathy 23 |
|
Kyphoscoliosis, Difficulty walking, Facial diplegia, Scapular winging, Waddling gait, Nemaline bo... |
OMIM:609285 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Waddling gait, Increased variability in muscle fiber diameter, Unsteady gait, Li... |
OMIM:612937 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ... |
OMIM:616852 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Scoliosis, Increased endomysial connective tissue... |
OMIM:620542 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... |
ORPHA:34516 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Scoliosis, Triceps weakness, Wad... |
ORPHA:86812 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia |
OMIM:237450 |
| Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Tip-toe gait, Broad-based gait, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scoliosis... |
ORPHA:353 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Accumulation of muscle fiber desmin, Difficulty walking, Muscle fiber inclusion bodies, Facial di... |
ORPHA:399058 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Muscular dystrophy, Torticollis, Scoliosis, Increased variability in muscle fiber diameter, Skele... |
OMIM:613204 |
| Myofibrillar Myopathy 11 |
|
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... |
OMIM:619178 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... |
OMIM:616313 |
| Congenital Myopathy 3 With Rigid Spine |
|
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Dec... |
OMIM:602771 |
| Congenital Myopathy 20 |
|
Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in mu... |
OMIM:620310 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Scoliosis, Abnormal Z disk morphology, Increased var... |
OMIM:618654 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Type 1 muscle fiber predominance, Scoliosis, Scapular winging, EMG: myopathic abnormalities, Gait... |
ORPHA:424107 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... |
OMIM:253700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular... |
OMIM:619065 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... |
OMIM:609200 |
| Miyoshi Muscular Dystrophy 1 |
|
Tip-toe gait, Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotro... |
OMIM:254130 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait a... |
ORPHA:309169 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Difficulty walking, Falls, Calf m... |
OMIM:608358 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Scoliosis, Kyphosis, Cryptorchidism, Increased variability in muscle fiber diamet... |
OMIM:618484 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis, Delayed puberty, Small pituitary gland, Short stature, Limb joint contracture, Sk... |
OMIM:612079 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Scapular winging, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... |
OMIM:301075 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... |
ORPHA:206549 |
| Nemaline Myopathy 6 |
|
Facial palsy, Nemaline bodies, Limb muscle weakness, Gait disturbance, Skeletal muscle atrophy, M... |
OMIM:609273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... |
OMIM:618138 |
| Merrf |
|
Ragged-red muscle fibers, Ataxia, Myopathy, Short stature |
ORPHA:551 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Ataxia, Neonatal hyperbilirubinemia, Sparse hair, Pigmentary retinopathy, Alopecia |
ORPHA:3363 |
| Alopecia Universalis Congenita |
|
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Waddlin... |
OMIM:616924 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Muscular dystrophy, Nail dystrophy, Nail dysplasia, Scarring alopecia of ... |
OMIM:226670 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Ptosis, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Multiminicore Myopathy |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Scoliosis, Short stature, Failure to... |
ORPHA:598 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Steppage gait, Distal amyotrophy, Scoliosis, Upper limb muscle weakness, Limb muscle weakness, Fi... |
OMIM:608340 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia |
ORPHA:55654 |
| Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... |
OMIM:160150 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Gait disturbance, Limb muscle... |
OMIM:167320 |
| Hypotrichosis 4 |
|
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia |
OMIM:146550 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Distal lower limb muscle weakness, Steppage gait, Distal amyotrophy, Scoliosis, Facial palsy, Nem... |
OMIM:607684 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Steppage gait, Difficulty walking, Amyotrophy of ankle musculature, Rimmed vacuoles, EMG: myopath... |
ORPHA:399086 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Camptoda... |
ORPHA:2251 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Waddling gait, Ptosis, Proximal amyotrophy |
OMIM:610542 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Steppage gait, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopat... |
OMIM:600334 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ragged-red muscle fibers, Scapular winging, Ptosis, Skeletal muscle atrophy, Weakness of facial m... |
OMIM:617069 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... |
ORPHA:2722 |
| Myopathy, Distal, Tateyama Type |
|
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... |
OMIM:614321 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Inability to walk, Scoliosis, Increased variability in muscle fiber diameter,... |
OMIM:617066 |
| Congenital Myopathy 10A, Severe Variant |
|
Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of fi... |
OMIM:614399 |
| Tubular Aggregate Myopathy |
|
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... |
ORPHA:2593 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... |
ORPHA:488650 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Telecanthus, Severe postnatal growth retardation, Thoracic kyphoscoliosis, Severe short stature, ... |
OMIM:203550 |
| Congenital Myopathy 18 |
|
Scoliosis, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fi... |
OMIM:620246 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... |
OMIM:615059 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Ptosis, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Scoliosis, Facial palsy, Ptosis, Type 1 fibers relatively smaller than type 2 fibers, Centrally n... |
OMIM:255310 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tip-toe gait, Steppage gait, Scoliosis, Hyperlordosis, Scapular winging, Gait disturbance, Intrin... |
OMIM:620285 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm... |
OMIM:608423 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... |
OMIM:620235 |
| Adult-Onset Nemaline Myopathy |
|
Type 1 muscle fiber predominance, Difficulty walking, Upper limb muscle weakness, Nemaline bodies... |
ORPHA:171442 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Failure to thrive, Ataxia, Skeletal muscle atrophy, Type 1 muscle fiber predom... |
OMIM:618276 |
| Myopathy, Tubular Aggregate, 1 |
|
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... |
OMIM:160565 |
| Nemaline Myopathy 7 |
|
Kyphoscoliosis, Weakness of facial musculature, Waddling gait, Nemaline bodies, Limb muscle weakn... |
OMIM:610687 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Gait ataxia |
OMIM:618808 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... |
OMIM:608807 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Calf muscle hypertrophy, Scoliosis, Increased variability in muscle fiber diameter, Centrally nuc... |
OMIM:611705 |
| Thumb Deformity And Alopecia |
|
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Difficulty walking, Calf muscle hypertrophy, Rimmed vacuoles, Scapular wi... |
OMIM:603689 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair |
OMIM:609227 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Alopecia-Intellectual Disability Syndrome |
|
Scoliosis, Sparse scalp hair, Short stature, Growth delay, Sparse body hair, Flexion contracture,... |
ORPHA:2850 |
| Alopecia Areata 1 |
|
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis |
OMIM:104000 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... |
ORPHA:98905 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Waddling gait, Loss of... |
OMIM:603511 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Difficulty walking, Ragged-red muscle fibers, Scoliosis, Scapular winging, Facial palsy, Muscle f... |
ORPHA:353327 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... |
OMIM:617294 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia |
OMIM:610753 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... |
ORPHA:1008 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... |
ORPHA:97240 |
| Ullrich Congenital Muscular Dystrophy |
|
Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities, Kyphosis, Increa... |
ORPHA:75840 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Myopathy, Distal, 3 |
|
Muscular dystrophy, Steppage gait, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... |
OMIM:610099 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Severe short stature, Abnormality of the nail, Hyperpigmentation of the skin |
OMIM:302000 |
| Myopathy, Myofibrillar, 7 |
|
Difficulty walking, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion... |
OMIM:617114 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tip-toe gait, Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Foot joi... |
ORPHA:536516 |
| Flynn-Aird Syndrome |
|
Cachexia, Scoliosis, Kyphosis, Ataxia, Skeletal muscle atrophy, Alopecia |
ORPHA:2047 |
| Distal Myotilinopathy |
|
Difficulty walking, Distal amyotrophy, Loss of ability to walk in first decade, EMG: myopathic ab... |
ORPHA:98911 |
| King-Denborough Syndrome |
|
Kyphoscoliosis, Bilateral ptosis, Scoliosis, Thoracic kyphosis, Bilateral cryptorchidism, Cryptor... |
OMIM:619542 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, ... |
ORPHA:399103 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Waddling ... |
OMIM:255200 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Severe failure to thrive, Rhizomelia, Coronal cleft vertebrae, Flexion contractur... |
OMIM:215100 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Absent pubic hair, Hyperpigmentatio... |
ORPHA:189 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy |
ORPHA:178145 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Ataxia, Myopathy |
OMIM:545000 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... |
OMIM:618414 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Ptosis, Rhabdomyolysis, Skeletal muscle atrophy |
OMIM:617070 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... |
OMIM:612999 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Congenital Myopathy 10B, Mild Variant |
|
Increased endomysial connective tissue, Generalized limb muscle atrophy, Difficulty walking, Type... |
OMIM:620249 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Spastic gait, Type 1 muscle fiber predominance, Ataxia |
ORPHA:972 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Central core regions in muscle fibers, Increased variability in muscle fiber ... |
ORPHA:401768 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Delayed puberty, Scoliosis, EMG: myopathic abnormalities, Limb muscle weakness, Cryptorchidism, I... |
ORPHA:486815 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Hypoglycosylation of alpha-dys... |
OMIM:613818 |
| Myopathy, Mitochondrial, And Ataxia |
|
Limb ataxia, Difficulty walking, Inability to walk, Thick hair, Truncal ataxia, Distal amyotrophy... |
OMIM:617675 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Nem... |
OMIM:255320 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Scoliosis, Facial palsy, Muscle fibe... |
OMIM:254090 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... |
OMIM:619790 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Ataxia, Inability to walk, Gait ataxia |
OMIM:617915 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... |
OMIM:620265 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Nail dystrophy, Hypermelanotic macule, Alopecia, Mixed hypo- and hyperpigmentatio... |
ORPHA:79397 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia |
ORPHA:505 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Difficulty walking, Ragged-red muscle fibers, Growth delay, Ataxia, Myopathy |
OMIM:618242 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers, Athetosis, Ataxia, Inability to walk |
OMIM:615159 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Scoliosis, Long eyelashes, Growth delay, Increased variability in muscle fiber diameter, Flexion ... |
OMIM:619026 |
| Muscle Filaminopathy |
|
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... |
ORPHA:171445 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Scoliosis, Waddling ga... |
ORPHA:34515 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Increase... |
OMIM:613157 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
| Parc Syndrome |
|
Alopecia, Absent eyelashes, Absent eyebrow |
OMIM:600331 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ptosis, Increased variability in muscle fiber diameter, Ataxia, Myopathy |
OMIM:125250 |
| Congenital Myopathy 15 |
|
Waddling gait, Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial ... |
OMIM:620161 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased muscle glycogen content, Ragged-red muscle fibers, Facial palsy, Failure to thrive, Hyp... |
OMIM:500009 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... |
OMIM:620375 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Difficulty walking, Limb muscle weakness, Increased vari... |
OMIM:613954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:618992 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Centrally nucleate... |
OMIM:601846 |
| Renpenning Syndrome |
|
Cachexia, Decreased testicular size, Growth delay, Severe short stature, Skeletal muscle atrophy,... |
ORPHA:3242 |
| Kearns-Sayre Syndrome |
|
Anterior hypopituitarism, Ragged-red muscle fibers, Abnormality of retinal pigmentation, Ataxia, ... |
ORPHA:480 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Calf muscle hypertrophy, Elbow flexion contracture, Thoracic kyphosis, Abnorma... |
ORPHA:206546 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... |
OMIM:616052 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Failure to thrive... |
OMIM:617228 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis, Limb muscle weakness, Ptosis, Decreased muscle mass, Type 1 muscle fibe... |
OMIM:603034 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Scoliosis, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atr... |
OMIM:310440 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Abnormality of the palpebral fissures, Scoliosis, Kyphosis, Cryptorchidism, Flexion contracture, ... |
ORPHA:178148 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Calf muscle hypertrophy, Scoliosis, EMG: myopathic abnormalities, Sh... |
OMIM:255160 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... |
OMIM:616812 |
| X-Linked Centronuclear Myopathy |
|
Inability to walk, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 ... |
ORPHA:596 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lo... |
ORPHA:98855 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Facial palsy, Short stature, Ptosis, Downslanted palpebral fissures, Sparse body h... |
ORPHA:3068 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lo... |
ORPHA:98863 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscular dystrophy, Difficulty walking, Truncal ataxia, Hyperlordosis, Waddling gait, Muscle fibe... |
ORPHA:369840 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscl... |
OMIM:161800 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Back pain |
OMIM:174050 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lo... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lo... |
ORPHA:98853 |
| Cap Myopathy |
|
Tip-toe gait, Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter... |
ORPHA:171881 |
| Typical Nemaline Myopathy |
|
Scoliosis, Facial diplegia, Facial palsy, Waddling gait, Nemaline bodies, Arthrogryposis multiple... |
ORPHA:171436 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Bilateral ptosis, Difficulty walking, Broad-based gait, Ragged-red muscle fibers, Gait disturbanc... |
OMIM:616479 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Difficulty walking, Broad-based gait, Calf muscle hypertrophy, Waddling gait, Increased variabili... |
ORPHA:119 |
| Marinesco-Sjogren Syndrome |
|
Limb ataxia, Scoliosis, Rimmed vacuoles, Kyphosis, Gait ataxia, Short stature, Failure to thrive,... |
OMIM:248800 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Type 1 muscle fiber predominance, Cryptorchidism, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618823 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis, Ptosis |
OMIM:617235 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Bilateral ptosis, Steppage gait, Ragged-red muscle fibers, Truncal ataxia, Scoliosis... |
OMIM:258450 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Alopecia |
OMIM:260910 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystr... |
OMIM:609308 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Congenital Myopathy 22A, Classic |
|
Bilateral ptosis, Kyphosis, Ragged-red muscle fibers, Scoliosis, Scapular winging, Waddling gait,... |
OMIM:620351 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Scoliosis, Rimmed vacuoles, Short stature, Failure to thrive, Centrally nucleated skeletal muscle... |
OMIM:619518 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, Difficulty walking, Progressive cerebellar ataxia, Weakness of... |
ORPHA:502423 |
| Clouston Syndrome |
|
Nail dysplasia, Nail dystrophy, Absent pubic hair, Brittle hair, Slow-growing hair, Hyperpigmenta... |
OMIM:129500 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Scoliosis, Rhabdomyolysis, Ataxia, Weakness of facial musculature, Chor... |
OMIM:618416 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Inability to walk, Loss of ability to walk in early childhood, Ragged-red muscle fibers, Facial d... |
OMIM:609560 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Ane Syndrome |
|
Kyphoscoliosis, Delayed puberty, Decreased response to growth hormone stimulation test, Reduced c... |
ORPHA:157954 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter,... |
OMIM:616470 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Back pain |
ORPHA:2924 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy |
OMIM:616816 |
| Pseudoprogeria Syndrome |
|
Absent eyelashes, Decreased body weight, Absent eyebrow, Growth delay, Failure to thrive, Sparse ... |
ORPHA:2985 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb muscle weakness, Hamstring contrac... |
OMIM:613205 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Trichorrhexis nodosa, Highly arched eyebrow, Type 2 muscle fiber predominance, Increased variabil... |
OMIM:619173 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Ptosis, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Bethlem Muscular Dystrophy |
|
Wrist flexion contracture, Limb-girdle muscle weakness, Quadriceps muscle weakness, Difficulty wa... |
ORPHA:610 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... |
OMIM:617072 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... |
OMIM:181405 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... |
ORPHA:1145 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Short stature, Hypohidrosis, Spars... |
ORPHA:1882 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Leg muscle stiffness, L... |
OMIM:608810 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Tip-toe gait, Muscular dystrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Difficult... |
ORPHA:370980 |
| Sézary Syndrome |
|
Irregular hyperpigmentation, Ectropion, Nail dystrophy, Skeletal muscle atrophy, Alopecia |
ORPHA:3162 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Scoliosis, Camptodactyly, Short stature, Flexion contracture, Epicanthus, Alopecia |
ORPHA:88630 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis |
OMIM:151800 |
| Spinocerebellar Ataxia 28 |
|
Limb ataxia, Ragged-red muscle fibers, Gait ataxia, Lower limb hypertonia, Ptosis |
OMIM:610246 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Difficulty walking, Paroxysmal choreoathetosis |
OMIM:500003 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Difficulty walking, Inability to walk, Calf muscle hypertrophy, Scapular winging, Proximal amyotr... |
ORPHA:206559 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Scoliosis, Facial pals... |
OMIM:617519 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Truncal ataxia, Abnormal mitochondria in muscle tissue, Short stature, ... |
OMIM:252011 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Cachexia, Slender build, Ataxia, Weight loss |
OMIM:613662 |
| Laing Early-Onset Distal Myopathy |
|
Scoliosis, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochond... |
ORPHA:59135 |
| Tietz Syndrome |
|
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... |
ORPHA:42665 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Failure to thrive, Ptosis |
OMIM:613561 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... |
ORPHA:317 |
| Glycogen Storage Disease Ixd |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... |
OMIM:300559 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hyperpigmentation of the skin, Brittle hair, Short stature, Failure to thrive, Epicanthus, Intrau... |
ORPHA:50812 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Multiple lentigines, Premature graying of body hair, Scoliosis, Scapular winging, Loss of ambulat... |
OMIM:270750 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Scoliosis, Facial palsy, Limb muscle weakness, Ptosis, Weakness of facial musculature, Arthrogryp... |
OMIM:608930 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Facial palsy, Multiple cafe-au-lait spots, Absent eyebrow, Hypohidrosis, Failur... |
ORPHA:2316 |
| Dpm3-Cdg |
|
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... |
OMIM:620138 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... |
ORPHA:352479 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail |
ORPHA:169095 |
| Central Core Disease |
|
Kyphoscoliosis, Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core reg... |
ORPHA:597 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Alopecia universalis, Short stature, Alopecia |
OMIM:600705 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Scoliosis, Short stature, Generalized amyotrophy, Muscle fiber atrophy, Failu... |
ORPHA:324604 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... |
OMIM:616867 |
| Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Abnormal vertebral morphology, Alopecia |
ORPHA:337 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Telecanthus, Sparse scalp hair, Sparse eyelashes, Abnormality of skin pigmentatio... |
ORPHA:75496 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Chanarin-Dorfman Syndrome |
|
Ectropion, Ataxia, Myopathy, Alopecia |
OMIM:275630 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
| Nicolaides-Baraitser Syndrome |
|
Short palpebral fissure, Curly eyelashes, Highly arched eyebrow, Scoliosis, Abnormal testis morph... |
ORPHA:3051 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Waddling gait, EMG: myopathic abnormalities, Hyperlordosis, Short stature, Incre... |
ORPHA:52430 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia, Gait disturbance |
OMIM:301094 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Scapular winging, Facial palsy, Shuffling gait, Hand muscle weakness, P... |
ORPHA:254886 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Hip flexor weakness, Abnormality of masticatory muscle, Scoliosis, Thoracic kyphoscoliosis, Trice... |
ORPHA:98913 |
| Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Proximal muscle weakness in upper limbs, Difficulty walking, Calf musc... |
ORPHA:169189 |
| Moynahan Syndrome |
|
Short stature, Cachexia, Sparse hair, Alopecia |
ORPHA:2574 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Spastic Paraplegia Type 7 |
|
Spastic gait, Ragged-red muscle fibers, Scoliosis, Upper limb muscle weakness, Lower limb hyperto... |
ORPHA:99013 |
| Congenital Myopathy 24 |
|
Facial palsy, Scapular winging, Waddling gait, Nemaline bodies, Type 1 muscle fiber predominance |
OMIM:617336 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Decreased body mass index, Scoliosis, Hemivertebrae, Sparse eyel... |
ORPHA:370079 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Kyphosis, Platyspondyly, Albinism |
ORPHA:2786 |
| Intermediate Nemaline Myopathy |
|
Difficulty walking, Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies,... |
ORPHA:171433 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Generalized limb muscle atrophy, Ragged-red muscle fibers, Hyperlordosis, Scapul... |
OMIM:600462 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Upper limb muscle weakness, Intrinsic hand muscle atrophy, Ptosis, Hand muscle atrophy, Type 2 mu... |
OMIM:601462 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Type 1 muscle fiber predominance, Shoulder flexion contracture, Nemaline bodies, Hip contracture,... |
OMIM:605355 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis, Decreased muscle mass, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:608931 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Epicanthus |
ORPHA:324581 |
| Hypomelanosis Of Ito |
|
Scoliosis, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Epicanthus, Alopecia |
OMIM:300337 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... |
ORPHA:3361 |
| Flynn-Aird Syndrome |
|
Kyphoscoliosis, Alopecia of scalp, Ataxia, Alopecia |
OMIM:136300 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Knee flexion contracture, Scoliosis, Elbow flexion contracture, Increa... |
OMIM:619461 |
| Native American Myopathy |
|
Bilateral ptosis, Abnormality of skeletal muscle fiber size, Inability to walk, Camptodactyly, Co... |
ORPHA:168572 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hypopigmentation of the skin, Fair hair |
OMIM:269920 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scoliosis, Scapular w... |
OMIM:617258 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Facial palsy, Kyphosis, Generalized amyotrophy, Ptosis, Proximal amyotr... |
OMIM:615084 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Impaired tandem gait, Type 2 muscle fiber predominance, Ataxia, Dysmetria |
OMIM:619028 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multiplex congenita, Nem... |
OMIM:619334 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, Hyperlipidemia, White hair, Iris hypopigmentation, Ataxia, Partial alb... |
ORPHA:79476 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy |
OMIM:609452 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Abnormality of the musculature of the lower limbs, Difficulty walking, Necrotizing myopathy, Rimm... |
ORPHA:329478 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, High anterior hairline, Scoliosis, Short stature, Downslanted pa... |
ORPHA:284180 |
| Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Dystrophic fingernails, Cachexia, Dystrophic toenail, Patchy alopecia, Abno... |
ORPHA:2930 |
| Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Ragged-red m... |
OMIM:606407 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... |
OMIM:614300 |
| Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, Scoliosis, Hirsutism, Sparse scalp hair, Long eyelashes, Short stat... |
OMIM:614608 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle glycogen content, Ragged-red muscle fibers, Increased muscle lipid content, Myop... |
ORPHA:254864 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... |
OMIM:615422 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Low posterior hairline, Nemaline bodies, Short stature, Ptosis, ... |
OMIM:616549 |
| Porphyria Cutanea Tarda |
|
Onycholysis, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis, Alopecia |
OMIM:176100 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ptosis, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:605809 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Ectropion, Nail dystrophy, Flexion contracture, Sparse hair, Alopecia |
OMIM:242300 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia |
OMIM:616299 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hyperpigmentation of t... |
OMIM:618892 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Abnormality of the nail, ... |
ORPHA:2348 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hypoplastic fingernail, Hyperconvex fingernails, Ptosis, Myopathy, Alopecia |
ORPHA:257 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, Proximal amyotrophy,... |
ORPHA:98902 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ptosis, Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy |
OMIM:254210 |
| Bathing Suit Ichthyosis |
|
Ectropion, Nail dystrophy, Hypohidrosis, Sparse hair, Multiple joint contractures, Alopecia |
ORPHA:100976 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Broad-based gait, Small nail, Decreased testicular size, Short s... |
OMIM:300978 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Spina bifida occulta, Scoliosis, Growth delay, Short stature, Sparse body hair, Epica... |
ORPHA:177 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... |
OMIM:619947 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Frontal hirsutism, Increased variability in muscle fiber diameter, Generalized hirsutism, Right v... |
OMIM:612949 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Limb ataxia, Difficulty walking, Truncal ataxia, Distal amyotrophy, Delayed menarche, Gait distur... |
ORPHA:412057 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... |
OMIM:620278 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Gait ataxia,... |
OMIM:607459 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Facial palsy, Scapular winging, Waddling gait, Hyperlordosis, Generalized amyotr... |
ORPHA:169186 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Kyphosis, Generalized amyotrophy, Ptosis, Weakness of facial musculatur... |
ORPHA:352447 |
| Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Hypopigmented skin patches, Ptosis, Abnormal fingernail morpholo... |
ORPHA:1647 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Nail dystrophy, Ridged nail, Alopecia |
OMIM:601705 |
| Greig Cephalopolysyndactyly Syndrome |
|
Nail dysplasia, Hirsutism, Camptodactyly of toe, Downslanted palpebral fissures, Abnormal muscle ... |
OMIM:175700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Scoliosis, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated s... |
OMIM:619574 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o... |
ORPHA:397744 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Bilateral ptosis, Difficulty walking, Increased variability in muscle fiber diameter, Rhabdomyoly... |
OMIM:255125 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis, Kyphosis, Ataxia, Blepharophimosis, Horner syndrome |
OMIM:141300 |
| Crandall Syndrome |
|
Brittle hair, Abnormal testis morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fi... |
ORPHA:202 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Absent pubertal growth spurt, Short stature, Gait ataxia |
ORPHA:438134 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Difficulty walking, EMG: myopathic abnormalities, Short stature, Ptosis, Ataxia, Incre... |
ORPHA:98907 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
ORPHA:766 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Lower limb hypertonia, Hip contracture, Failure to thrive, Choreoathet... |
ORPHA:319514 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Optic Atrophy 11 |
|
Facial diplegia, Athetosis, Gait apraxia, Short stature, Increased variability in muscle fiber di... |
OMIM:617302 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia |
OMIM:601775 |
| Pili Torti |
|
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... |
ORPHA:2889 |
| Adrenoleukodystrophy |
|
Limb ataxia, Hyperpigmentation of the skin, Truncal ataxia, Lower limb muscle weakness, Alopecia |
OMIM:300100 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Fiber type grouping, Skeletal muscle atrophy, Diaphragmatic eventrat... |
OMIM:620011 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... |
ORPHA:79083 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... |
OMIM:123320 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| 15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Postnatal growth retardation, Decreased response to growth hormo... |
ORPHA:94065 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... |
OMIM:602032 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail, Abnormal eyelid... |
ORPHA:2584 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... |
ORPHA:33445 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair morphology, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenail morpholo... |
ORPHA:248 |
| Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Sparse bo... |
ORPHA:2890 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Tip-toe gait, Difficulty walking, Inability to walk, Retrocollis, Lower-limb joint contracture, C... |
ORPHA:300605 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Hirsutism, Hyperlordosis, Increased v... |
OMIM:613327 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Red hair |
OMIM:609734 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovar... |
ORPHA:2232 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... |
ORPHA:2325 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Failure to thrive, Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Hypohidrosis, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:616866 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Difficulty walking, Distal upper limb amyotrophy, Rimmed vacuoles, Unsteady gait, Abnormality of ... |
ORPHA:600 |
| Craniofrontonasal Dysplasia |
|
Congenital diaphragmatic hernia, Abnormality of hair texture, Scoliosis, Woolly hair, Low posteri... |
ORPHA:1520 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... |
OMIM:104100 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Nail dystrophy, Alopecia |
OMIM:616487 |
| Congenital Ichthyosiform Erythroderma |
|
Ectropion, Abnormality of the nail, Short stature, Failure to thrive, Hypohidrosis, Alopecia |
ORPHA:79394 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... |
OMIM:256710 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Nail dystrophy, Patchy alopecia, Camptodactyly of finger, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Hypopigmentation of the skin, Skeletal muscle atrophy, Abdominal obesity, Myo... |
OMIM:615980 |
| Hypotrichosis 5 |
|
Absent pubic hair, Abnormal sweat gland morphology, Abnormality of the nail, Sparse eyelashes, Th... |
OMIM:612841 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Coarse hair, Small nail, Patchy alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenai... |
OMIM:613573 |
| Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Alopecia |
OMIM:604931 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Ataxia, P... |
ORPHA:453533 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... |
ORPHA:444 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Hyperpigmentation of the skin, Atrichia, Decreased testicular size, Short stature... |
ORPHA:1867 |
| Oculopharyngodistal Myopathy 1 |
|
Bilateral ptosis, Difficulty walking, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagi... |
OMIM:164310 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb... |
OMIM:157640 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Facial palsy, Waddling gait, Increased endomysial connective tissue, Myopathy |
OMIM:602541 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Telecanthus, Vertebral segmentation defect, Short stature, Ptosi... |
ORPHA:1915 |
| Bachmann-Bupp Syndrome |
|
Small nail, Hyperbilirubinemia, Sparse scalp hair, Absent eyebrow, Sparse eyelashes |
OMIM:619075 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Blue irides, Hypopigmentation of hair |
OMIM:606574 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Nail dystrophy, Highly arched eyebrow, Short stature |
OMIM:300887 |
| Free Sialic Acid Storage Disease |
|
Athetosis, Gait disturbance, Abnormality of skin pigmentation, Iris hypopigmentation, Ataxia, Apl... |
ORPHA:834 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... |
ORPHA:2885 |
| Adams-Oliver Syndrome 2 |
|
Limb hypertonia, Small nail, Low anterior hairline, Narrow palpebral fissure, Alopecia |
OMIM:614219 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Obesity, Achilles tendon contracture, Ske... |
OMIM:615418 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair |
ORPHA:1410 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Abnormality of skin pigmentation, Failure to thrive, Ataxia, Sparse hair, Intraut... |
OMIM:616353 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis, Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Delayed puberty, Cholelithiasis, Low posterior hairline, Short stature, I... |
OMIM:611881 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
| Amyotrophic Lateral Sclerosis 21 |
|
Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i... |
OMIM:606070 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Distal amyotrophy, Athetosis, Fiber type grouping, Loss of ambulation, Ataxia |
OMIM:271245 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
EMG: myopathic abnormalities, Growth delay, Skeletal myopathy, Muscle fiber atrophy, Exercise-ind... |
ORPHA:57 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Difficulty walking, Fiber type g... |
OMIM:500013 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... |
OMIM:614929 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Ataxia, Gait disturbance |
ORPHA:1349 |
| Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Onychogryposis, Hyperpigmentation of the skin, Hypopigmentation of the skin, Grow... |
ORPHA:79396 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Delayed puberty, Neoplasm of the pancreas, Broad-based gait, Hyperpigmented nevi, Low posterior h... |
ORPHA:2959 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy |
OMIM:540000 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Ataxia |
ORPHA:713 |
| Monilethrix |
|
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia |
OMIM:158000 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Elevated circulating creatine kinase concentration, Hyperuricemia |
OMIM:232800 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbiliru... |
OMIM:613280 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Low posterior hairline, Short stature, Sparse eyebrow, Downslant... |
OMIM:606164 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Gait disturbance, Limb muscle weakness, P... |
OMIM:609286 |
| Zaki Syndrome |
|
Congenital diaphragmatic hernia, Spastic gait, Scoliosis, Sparse scalp hair, Sparse lateral eyebr... |
OMIM:619648 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Lethal Congenital Contracture Syndrome 9 |
|
Axillary pterygium, Abnormality of the diaphragm, Thoracic kyphoscoliosis, Wrist flexion contract... |
OMIM:616503 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Vertebral segmentation defect, Moderate postnatal growth retardation, Kyphosis, Hypohi... |
ORPHA:1005 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Skeletal muscle atrophy, Alopecia |
OMIM:210210 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature |
OMIM:615959 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Patchy alopecia, Multiple cafe-au-lait spots, Decreased testicular size, Camptodactyly of finger,... |
ORPHA:85279 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Facial hypotonia, Shuffling gait, Patchy alopecia, Decreased body weight, Decreas... |
OMIM:300534 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentation, Spars... |
ORPHA:79402 |
| 13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly, Short stature, Failure to thrive,... |
ORPHA:412035 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Ptosis, Gait ataxia |
ORPHA:70595 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Ragged-red muscle fibers, Cachexia, Ptosis, Decreased muscle mass, Foot dorsiflexor weakness, Abn... |
ORPHA:298 |
| Abetalipoproteinemia |
|
Kyphoscoliosis, Decreased HDL cholesterol concentration, Steppage gait, Hypotriglyceridemia, Broa... |
ORPHA:14 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Kyphoscoliosis, Scarring alopecia of scalp, Abnormality of the nail, Severe postnatal growth reta... |
ORPHA:35173 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
| Alopecia Totalis |
|
Alopecia of scalp, Onycholysis, Nail pits, Fragile nails, Trachyonychia, Vitiligo, Alopecia totalis |
ORPHA:700 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Ectropion, Alopecia of scalp, Absent pubic hair, Sparse eyebrow, Unsteady gait, Absent axillary h... |
ORPHA:2269 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Distal Xq28 Microduplication Syndrome |
|
Cafe-au-lait spot, Tip-toe gait, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:293939 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Nail dystrophy, Hyperhidrosis, Flexion contracture, Sparse hair, Subungual hyperk... |
OMIM:614594 |
| Monilethrix |
|
Brittle hair, Slow-growing hair, Abnormality of the nail, Abnormal eyelash morphology, Patchy alo... |
ORPHA:573 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Skeletal muscle ... |
ORPHA:206569 |
| Nestor-Guillermo Progeria Syndrome |
|
Nail dystrophy, Scoliosis, Sparse scalp hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow... |
OMIM:614008 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal vertebral morphology, Truncal obesity, Epicanthus, Supernumerary nipple, Alopecia |
ORPHA:3224 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Conge... |
OMIM:615368 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Hypoplastic fingernail, Spina bifida occ... |
ORPHA:464 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Abnormality of the ... |
OMIM:614886 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Short stature, Vitiligo, Skeletal muscle atrophy |
OMIM:221350 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Type 2 muscle fiber predominance, Scoliosis, Growth delay, Failure to thrive, Downslanted palpebr... |
OMIM:615471 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Downslanted palpebral fissures, Thick eyebrow, Highly arched eye... |
OMIM:618774 |
| Terminal Osseous Dysplasia |
|
Telecanthus, Camptodactyly of toe, Camptodactyly of finger, Ptosis, Abnormality of skin pigmentat... |
OMIM:300244 |
| Wolcott-Rallison Syndrome |
|
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Hyperlordosis,... |
ORPHA:3253 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... |
OMIM:277580 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism, Short stature, Vertebral segmentation defect |
ORPHA:1166 |
| Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Hypoplastic fingernail, Abnormality of skin pigmentation, Sparse ha... |
ORPHA:2457 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Fiber type grouping, Small t... |
OMIM:620080 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Ragged-red muscle fibers, Short stature, Ptosis, Ataxia, Pigmentary retinopathy |
OMIM:530000 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Blepharitis, Sparse... |
OMIM:612843 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Cachexia, Abnormality of skin pigmentation, ... |
ORPHA:1979 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Myasthenic Syndrome, Congenital, 19 |
|
Ptosis, Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Hyperpigmentation of the skin, Absent eyelashes, Short stature, Abnormal eyebrow ... |
ORPHA:90153 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... |
OMIM:616860 |
| Oculocerebrocutaneous Syndrome |
|
Orbital cyst, Cryptorchidism, Eyelid coloboma, Alopecia |
OMIM:164180 |
| Methionine Malabsorption Syndrome |
|
Blue irides, Positive ferric chloride test, White hair |
OMIM:250900 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Short stature, Intrauterine ... |
ORPHA:75389 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Telecanth... |
ORPHA:363528 |
| Localized Junctional Epidermolysis Bullosa |
|
Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Limb join... |
ORPHA:251393 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Cafe-au-lait spot, Low anterior hairline, Neonatal hyperbilirubinemia, Low posterior hairline |
ORPHA:73272 |
| 12Q14 Microdeletion Syndrome |
|
Hyperpigmentation of the skin, Scoliosis, Synophrys, Short stature, Failure to thrive, Thick eyeb... |
ORPHA:94063 |
| Kury-Isidor Syndrome |
|
Scoliosis, Growth delay, Ptosis, Downslanted palpebral fissures, Hypertrichosis, Alopecia |
OMIM:619762 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:895 |
| Menkes Disease |
|
Brittle hair, Hypopigmentation of the skin, Short stature, Sparse hair, Intrauterine growth retar... |
OMIM:309400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Hypoplastic toenails |
OMIM:604377 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Calcinosis, Nail dystrophy, Hyperpigmentation of the skin, Abnormal hair morphol... |
ORPHA:90154 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Downslante... |
OMIM:617022 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... |
OMIM:193510 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:261102 |
| Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... |
OMIM:613265 |
| Monosomy 18P |
|
Kyphoscoliosis, Low posterior hairline, Short stature, Ptosis, Epicanthus, Alopecia |
ORPHA:1598 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp |
ORPHA:346 |
| Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Growth delay, Ataxia, Weight loss, Alopecia |
ORPHA:79242 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Ragged-red muscle fibers, Ptosis, Skeletal muscle atrophy, Weakness of facial musculature, Myopathy |
OMIM:616239 |
| Congenital Myasthenic Syndrome |
|
Tip-toe gait, Kyphoscoliosis, Distal lower limb muscle weakness, Difficulty walking, Frontalis mu... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Tip-toe gait, Kyphoscoliosis, Distal lower limb muscle weakness, Difficulty walking, Frontalis mu... |
ORPHA:98914 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Pterygium, Onycholysis, Abnormal fingernail morphology, Alopecia |
ORPHA:525 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... |
ORPHA:894 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Nail dysplasia, Nail dystrophy, Growth delay, Flexion contracture, Conjunctivitis, Alopecia |
OMIM:226600 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubinemia |
ORPHA:79303 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Congenital diaphragmatic hernia, Bilateral ptosis, Kyphosis, Axillary pterygium, Pterygium, Scoli... |
OMIM:265000 |
| Alopecia Universalis |
|
Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Vitiligo, Alopecia un... |
ORPHA:701 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Short stature, Failure to thrive, Weight loss, Conjunctivitis, Alopecia |
ORPHA:47 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Macronodular adrenal hyperplasia, Hirsutism, Increased body weight, Primary hyperparathyroidism, ... |
ORPHA:189427 |
| Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Loss of eyelashes, Cholelithiasis, Vertebral compression fracture,... |
OMIM:263700 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:129 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Adult Syndrome |
|
Breast hypoplasia, Toenail dysplasia, Nasolacrimal duct obstruction, Abnormality of the nail, Hyp... |
ORPHA:978 |
| Leigh Syndrome |
|
Athetosis, Frontal hirsutism, Ptosis, Failure to thrive, Growth delay, Ataxia, Skeletal muscle at... |
ORPHA:506 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Ectropion, Alopecia |
OMIM:242510 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Telecanthus |
ORPHA:380 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hypopigmentation, ... |
ORPHA:411515 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Growth delay, Flexion contracture, Sparse hair, Mottled pigmentation, Alopecia |
OMIM:608612 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia of scalp, Nail dystrophy, Hypermelanotic macule, Hypomelanotic macule, Conjunctival tela... |
OMIM:618373 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Telecanthus, Frontotemporal hypertrichosis, Flexion contracture,... |
OMIM:263210 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Alopecia |
ORPHA:100025 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia |
OMIM:617049 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Ptosis, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Weight loss, Gait disturbance |
ORPHA:732 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormality of the nail, Abnormal eyelid morphology, Short stature, Blepharitis, Abn... |
ORPHA:37 |
| Macs Syndrome |
|
Palpebral edema, Scoliosis, Decreased body weight, Short stature, Sparse eyebrow, Downslanted pal... |
OMIM:613075 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Keratoderma Hereditarium Mutilans |
|
Abnormality of the nail, Abnormal toenail morphology, Alopecia |
ORPHA:494 |
| Piebaldism |
|
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... |
ORPHA:2884 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Generalized hypopigmentation, Scoliosis, Cachexia, Multiple cafe-au-lait spots, Kyphosis, Short s... |
ORPHA:1969 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Ectropion, Thin nail, Small nail, Abnormal hair morphology, Growth delay, Hypohidrosis, Anhidrosi... |
OMIM:242100 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Sparse hair, Woolly hair, Flexion contracture of digit |
OMIM:619208 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... |
OMIM:603553 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Downslanted palpebral fissures, Widow's peak |
ORPHA:2143 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... |
ORPHA:897 |
| Dyskeratosis Congenita, Digenic |
|
Bilateral ptosis, Nail dystrophy, Sparse eyelashes, Decreased testicular size, Abnormality of ski... |
OMIM:620040 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis, Spastic gait, Multiple lentigines, Silver-gray hair, Waddling gait, Vitiligo |
ORPHA:101003 |
| Bresek Syndrome |
|
Scoliosis, Hemivertebrae, Decreased testicular size, Growth delay, Intrauterine growth retardatio... |
ORPHA:85284 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:266120 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Hyperlipidemia, Iris hypopigmentation, Parti... |
ORPHA:79477 |
| Large Congenital Melanocytic Nevus |
|
Hypopigmented skin patches, Rhabdomyosarcoma, Congenital giant melanocytic nevus, Abnormality of ... |
ORPHA:626 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Ragged-red muscle fibers, Growth delay, Increased variability in muscle fiber diameter, Rhabdomyo... |
ORPHA:17 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... |
ORPHA:79414 |
| Incontinentia Pigmenti |
|
Kyphoscoliosis, Breast hypoplasia, Nail dystrophy, Nail dysplasia, Ridged nail, Breast aplasia, O... |
OMIM:308300 |
| Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature, Downslanted palpebral fissu... |
OMIM:601853 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Alopecia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse body hair,... |
ORPHA:69735 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair,... |
ORPHA:1810 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Cryptorchidism |
OMIM:615524 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... |
ORPHA:3008 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Small nail, Scoliosis, Vertebral segmentation defect, Upslanted ... |
OMIM:612530 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Neuromuscular Oculoauditory Syndrome |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscle fiber necrosis, Wrist flexion contr... |
OMIM:618733 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palpebral edema, Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Spar... |
OMIM:607823 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Leprosy |
|
Steppage gait, Loss of eyelashes, Absent eyebrow, Hypohidrosis, Sparse body hair, Skeletal muscle... |
ORPHA:548 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,... |
OMIM:129400 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Idiopathic Trachyonychia |
|
Nail dystrophy, Thin nail, Ridged nail, Toenail dysplasia, Abnormality of the periungual region, ... |
ORPHA:79153 |
| Lathosterolosis |
|
Butterfly vertebrae, Lumbosacral meningocele, Hyperbilirubinemia, Hyperammonemia, Elevated circul... |
OMIM:607330 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia |
ORPHA:79411 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Mogs-Cdg |
|
Short palpebral fissure, Hirsutism, Long eyelashes, Hydrocele testis, Left ventricular hypertroph... |
ORPHA:79330 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Synaptic Congenital Myasthenic Syndromes |
|
Bilateral ptosis, Scoliosis, Scapular winging, Facial palsy, Waddling gait, Hand muscle weakness,... |
ORPHA:98915 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Short stature, Failure to thrive, Fragile nails, Sparse hair, Conjunctivitis, Alopecia |
OMIM:242150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... |
OMIM:608836 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral ptosis, Large for gestational age, Small nail, Absent eyelashes, Sparse scalp hair, Bil... |
ORPHA:544488 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Telecanthus, Intrauterine growth retardation, Fine hair, Cryptorchidism, Upslanted palpebral fiss... |
ORPHA:228390 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Short stature, Intrauterine growth retardation, Small for gestat... |
OMIM:616777 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot, Short stature, Downslanted palpe... |
ORPHA:166035 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Alopecia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes,... |
OMIM:137940 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Sternocleidomastoid amyotrophy, Generalized amyotrophy, Elevated circulating fol... |
OMIM:602668 |
| Gapo Syndrome |
|
Nail dysplasia, Breast hypoplasia, Scoliosis, Hypoplastic nipples, Facial palsy, Sparse eyelashes... |
OMIM:230740 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Inability to walk |
OMIM:166300 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Gait disturbance, Gait apraxia, Ataxia, Dysmetria, Alopecia |
OMIM:600142 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Bartsocas-Papas Syndrome 1 |
|
Ectropion, Small nail, Ablepharon, Intrauterine growth retardation, Cicatricial lagophthalmos, An... |
OMIM:263650 |
| Hypotrichosis 8 |
|
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... |
OMIM:278150 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... |
OMIM:617156 |
| Severe Congenital Nemaline Myopathy |
|
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... |
ORPHA:171430 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Small nail, Short stature, Growth delay, Cryptorchidism, Upslant... |
ORPHA:250999 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Postnatal growth retardation, Calcinosis, Onychogryposis, Elbow flexion contracture, Sparse scalp... |
OMIM:248370 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, Upslanted palpebral fissure, Sparse scalp... |
ORPHA:1001 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Scoliosis, Camptodactyly, Kyphosi... |
OMIM:617602 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia |
OMIM:614564 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Ectropion, Hypermelanotic macule, Entropion, Pterygium, Decreased tes... |
ORPHA:910 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Pachyonychia Congenita |
|
Nail dystrophy, Onychogryposis of toenails, Onychogryposis of fingernail, Failure to thrive, Fing... |
ORPHA:2309 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Elevated circulat... |
OMIM:618156 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Scoliosis, Congenital contracture, Increased var... |
OMIM:613150 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Gait disturbanc... |
ORPHA:100 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Kyphoscoliosis, Nail dystrophy, Annular pancreas, Absent eyelashes, Sp... |
OMIM:268400 |
| Gapo Syndrome |
|
Hypopigmented skin patches, Palpebral edema, Abnormal form of the vertebral bodies, Sparse eyelas... |
ORPHA:2067 |
| H Syndrome |
|
Delayed puberty, Hyperpigmentation of the skin, Upper eyelid edema, Camptodactyly, Decreased test... |
ORPHA:168569 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal form of the vertebral bodies, Scoliosis, Gait disturbance, Short stature, Hyperparathyro... |
ORPHA:93160 |
| Localized Scleroderma |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Patchy alopecia, Vitiligo, Flexion con... |
ORPHA:90289 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Hyperpigmentation of the skin, Cachexia, Alopecia |
OMIM:175500 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Neonatal death, Conjugated hyperb... |
OMIM:614887 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
ORPHA:36 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Inability to walk, Myositis, Scoliosis, Hyperlordosis, Facial palsy, Decrease... |
ORPHA:258 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Breast hypoplasia, Axillary pterygium, Telecanthus, Ridged nail,... |
OMIM:304110 |
| Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... |
OMIM:227810 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Satoyoshi Syndrome |
|
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Hyperlordosis, Abn... |
ORPHA:3130 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Testicular atrophy |
OMIM:601163 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Hypopigmented skin patches, Nail dystrophy, Neoplasm of the pancreas, ... |
ORPHA:1775 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Neutral Lipid Storage Myopathy |
|
Generalized limb muscle atrophy, Difficulty walking, Rimmed vacuoles, Hand muscle weakness, Short... |
ORPHA:98908 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hyperlordosis, Hypopigmentation of the skin, Kyphosis, Decreased response to growth hormone stimu... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hyperlordosis, Hypopigmentation of the skin, Kyphosis, Decreased response to growth hormone stimu... |
ORPHA:363958 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Nail dystrophy, Woolly hair, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Alopecia |
OMIM:605676 |
| Rothmund-Thomson Syndrome |
|
Nail dysplasia, Calcinosis, Small nail, Abnormality of the nail, Hypopigmentation of the skin, Sp... |
ORPHA:2909 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Bilateral cryptorchidism, Unilateral crypto... |
OMIM:300219 |
| Ermine Phenotype |
|
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... |
OMIM:227010 |
| Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Ataxia, Limb muscle weakness |
ORPHA:79241 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Hypoplastic toenails, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/H... |
ORPHA:1234 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the nail, Scoliosis, Diastasis recti, Camptodacty... |
ORPHA:2092 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Inability to walk, Long eyelashes, Failure to thrive, Flexion co... |
OMIM:618651 |
| Snakebite Envenomation |
|
Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Congenital diaphragmatic hernia, Conjunctival telangiectasia, Short stature, Joint contracture, A... |
OMIM:615919 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Delayed puberty, Calf muscle hypertrophy, White forelock, Patchy hypo-... |
ORPHA:79474 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Frontonasal Dysplasia 2 |
|
Short palpebral fissure, Telecanthus, Intrauterine growth retardation, Bilateral cryptorchidism, ... |
OMIM:613451 |
| Short Syndrome |
|
Telecanthus, Severe short stature, Weight loss, Sparse hair, Alopecia |
ORPHA:3163 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contracture, Thymus hyp... |
OMIM:619036 |
| Classic Phenylketonuria |
|
Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis, Proximal amyotrophy, Type 2 muscle fiber atrophy |
OMIM:159400 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Ataxia, Inability to walk, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Small for gestational age |
ORPHA:63862 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Scoliosis, Kyphosis, Downslanted palpebral fissures, Intrauterin... |
ORPHA:2075 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc |
OMIM:617093 |
| Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Scapular winging |
OMIM:613507 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Scoliosis, Short stature, Alopecia |
OMIM:620651 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:613673 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter |
OMIM:616538 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Abnormality of the vertebral column |
ORPHA:400 |
| Lissencephaly Due To Lis1 Mutation |
|
Scoliosis, Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Melas |
|
Hypoparathyroidism, Ragged-red muscle fibers, Pigmentary retinopathy, Gait disturbance, Abnormal ... |
ORPHA:550 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Facial hypotonia, Waddling gait, Short stature, Failure to thriv... |
OMIM:616364 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Ragged-red muscle fibers, Gait ataxia, Ptosis, Ataxia, Epicanthus |
OMIM:620451 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Congenital diaphragmatic hernia, Spina bifida occulta, Abnormal form of the vertebral bodies, Sco... |
ORPHA:2311 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia, Ataxia |
ORPHA:822 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Hypopigmentation of hair |
ORPHA:70472 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis, Short stature |
ORPHA:1488 |
| Rothmund-Thomson Syndrome Type 1 |
|
Nail dysplasia, Calcinosis, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmen... |
ORPHA:221008 |
| Dehydrated Hereditary Stomatocytosis |
|
Abnormal blood potassium concentration, Increased circulating ferritin concentration, Increased t... |
ORPHA:3202 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Thymus hyperplasia, Intrauterine growth retardation |
ORPHA:563609 |
| Olmsted Syndrome, X-Linked |
|
Alopecia totalis, Blepharitis, Subungual hyperkeratosis, Posterior blepharitis |
OMIM:300918 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Camptodactyly of toe, Absent to... |
ORPHA:158687 |
| Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Lower eyelid coloboma, Alopecia |
OMIM:616367 |
| Johanson-Blizzard Syndrome |
|
Short stature, Failure to thrive, Absent lacrimal punctum, Abnormal hair pattern, Intrauterine gr... |
ORPHA:2315 |
| Linear Nevus Sebaceus Syndrome |
|
Irregular hyperpigmentation, Adenoma sebaceum, Telecanthus, Vertebral segmentation defect, Growth... |
ORPHA:2612 |
| Juvenile Dermatomyositis |
|
Calcinosis, Palpebral edema, Myositis, Weight loss, Alopecia |
ORPHA:93672 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Alopecia, Generalized hypopigmentation, Decreased testicular size, Short... |
OMIM:619321 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Sparse hair, Alopecia |
ORPHA:1839 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Scoliosis, Progressive cervical vertebral spine fusion, Alopecia |
OMIM:135100 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypopigmented skin patches, Hypoparathyroidism, Alopecia |
ORPHA:3143 |
| Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Foot joint contracture, Joint contr... |
ORPHA:220402 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein, Ataxia |
ORPHA:1020 |
| Rh Deficiency Syndrome |
|
Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Nail dysplasia, Nail dystrophy, Short stature, Growth delay, Ataxia, I... |
OMIM:613990 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Loss of ambulation, Ataxia, Decreased level of coenzyme Q10 in skeletal... |
OMIM:607426 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis, Hypopigmentation of the skin, Growth delay, Short stature, Alopecia |
OMIM:163200 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177910 |
| Wiedemann-Rautenstrauch Syndrome |
|
Ectropion, Small nail, Intrauterine growth retardation, Alopecia of scalp, Entropion, Truncal ata... |
OMIM:264090 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Hirsutism, Increased body weight, Alopecia |
OMIM:615830 |
| Limb-Mammary Syndrome |
|
Nail dysplasia, Chronic irritative conjunctivitis, Aplasia of the ovary, Breast aplasia, Lacrimal... |
ORPHA:69085 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
| Autosomal Dominant Robinow Syndrome |
|
Curly eyelashes, Abnormal form of the vertebral bodies, Euryblepharon, Scoliosis, Hemivertebrae, ... |
ORPHA:3107 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Ptosis, Slender build, Weight loss |
OMIM:603041 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Kyphosis, Severe short stature, Sparse hair, Thin fingernail, Abnormal h... |
ORPHA:2273 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Cryptorchidism, Small for gestational age |
ORPHA:95706 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, EMG: myopathic abnormali... |
ORPHA:254892 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Growth delay, Downslanted palpebral fissures, Obe... |
ORPHA:251071 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Mixed Connective Tissue Disease |
|
Myositis, Keratoconjunctivitis sicca, Alopecia |
ORPHA:809 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Torticollis, Scoliosis, Kyphosis, Failure to thrive, Joint contr... |
OMIM:609029 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis, Failure to thrive, Obe... |
ORPHA:261197 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Difficulty walking, Growth delay, Failure to thrive, Epicanthus, Secondary hyperparathyroidism, A... |
OMIM:277440 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches, Hypoparathyroidism, Adrenal hyperplasia, Abnormal fingernail morpholo... |
ORPHA:3453 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia |
ORPHA:348 |
| Cohen Syndrome |
|
Delayed puberty, Thick hair, Abnormal eyelash morphology, Abnormal eyelid morphology, Scoliosis, ... |
ORPHA:193 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Ptosis, Failure to thrive |
OMIM:614924 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Fetal Cytomegalovirus Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:294 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Alopecia |
OMIM:241090 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Generalized hypertrichosis, Bilateral cryptorchidism, Growth del... |
ORPHA:2409 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hyperpigmentation of the skin, Alopecia |
OMIM:235200 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair |
OMIM:225050 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyelashes, Failure to thrive, Sparse eyebrow, Alopecia |
OMIM:610768 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Difficulty walking, Myositis... |
ORPHA:99845 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia |
ORPHA:93552 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Keratoconjunctivitis, Vitiligo, Alopecia univ... |
OMIM:240300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Rothmund-Thomson Syndrome Type 2 |
|
Nail dysplasia, Calcinosis, Sparse or absent eyelashes, Hyperpigmentation of the skin, Hypopigmen... |
ORPHA:221016 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Vitiligo |
ORPHA:2137 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:614072 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Postnatal growth retardation, Rhizomelia, Scoliosis, Hemivertebrae, Patchy alopec... |
OMIM:302960 |
| Keutel Syndrome |
|
Short stature, Alopecia |
ORPHA:85202 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Danon Disease |
|
Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Limb muscle weakness, G... |
OMIM:300257 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Spinal canal stenosis, Red hair, Fair hair |
OMIM:614613 |
| Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Pheochromocytoma, Scoliosis, Patchy alopecia, Hyperhidrosis, Melanocytic nevus,... |
ORPHA:2874 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Hooded eyelid, Scoliosis, Cryptorchidism, Growth... |
ORPHA:96170 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Nail dystrophy, Lumbar hypertrichosis, Low posterior hairline, Synophrys, Generalized hirsutism, ... |
ORPHA:163956 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Difficulty walking,... |
ORPHA:206572 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Nail dystrophy |
ORPHA:1366 |
| Giant Cell Arteritis |
|
Ptosis, Hyperhidrosis, Ataxia, Weight loss, Alopecia |
ORPHA:397 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia |
OMIM:261990 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short neck, Ataxia, Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... |
ORPHA:1834 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hyperconvex nail, Nail dystrophy, Hyperpigmentation of the skin, Absent eyelashes, Lacrimal duct ... |
OMIM:106260 |
| Autosomal Recessive Robinow Syndrome |
|
Disproportionate short-limb short stature, Scoliosis, Vertebral segmentation defect, Kyphosis, Lo... |
ORPHA:1507 |
| Celiac Disease, Susceptibility To, 1 |
|
Delayed puberty, Postnatal growth retardation, Short stature, Failure to thrive, Ataxia, Weight l... |
OMIM:212750 |
| Thyrotoxic Periodic Paralysis |
|
Rhabdomyolysis, Obesity, Hyperhidrosis, Weight loss, Increased intramyocellular lipid droplets, A... |
ORPHA:79102 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar hyperhidrosis, Alopecia |
ORPHA:659 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Stillbirth |
OMIM:259720 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Nail dystrophy, Pterygium of nails, Ridged nail, Pterygium, Hyperpigme... |
OMIM:305000 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tip-toe gait, Broad eyebrow, Broad-based gait, Falls, Hyperbilirubinemia, Scoliosis, Hypopigmenta... |
OMIM:619475 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Small nail, Hypoplastic nipples, ... |
OMIM:614866 |
| Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... |
ORPHA:411511 |
| Immunodeficiency 7 |
|
Failure to thrive, Vitiligo, Patchy alopecia |
OMIM:615387 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
| Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig... |
ORPHA:218 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, High anterior hairline, Curly eyelashes, Scoliosis, Facial palsy... |
OMIM:301022 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Butterfly vertebrae, Abnormal form of the vertebral bodies, High... |
ORPHA:2322 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Small nail, Scoliosis, Vertebral hypoplasia, Thyroid hypoplasia, Short stature, Flexion contractu... |
OMIM:308050 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair |
ORPHA:2221 |
| Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
| Steinert Myotonic Dystrophy |
|
Bilateral ptosis, Decreased response to growth hormone stimulation test, Inability to walk, Abnor... |
ORPHA:273 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
| Adams-Oliver Syndrome |
|
Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Failure to thrive, Spars... |
ORPHA:974 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Unilateral ptosis |
OMIM:619699 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Breast hypoplasia, Bilateral ptosis, Postnatal growth retardatio... |
ORPHA:1272 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Eyelid coloboma, Limbal dermoid, Cryptorchidism, Alopecia |
OMIM:613001 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Nail dystrophy, Ridged nail, Reticular hyperpigmentation, Nail pits, A... |
OMIM:127550 |
| Oculocutaneous Albinism Type 1 |
|
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... |
ORPHA:352731 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Hypoplasia of the musc... |
ORPHA:2020 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Abnormality of skin pigmentation, Abnormal fingernail morphology, Hypohidrosis, Sp... |
ORPHA:1806 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Scoliosis, Hypopigmentation of the sk... |
ORPHA:98794 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Short stature, Camptodactyly of finger, Abnormality of ... |
ORPHA:93473 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Thick hair, Bile duct proliferation, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia |
OMIM:607626 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Failure to... |
ORPHA:2470 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Elbow flexion contracture, Thoracic kyphoscoliosis, EMG: myopathic abnormalities, Limb muscle wea... |
ORPHA:1900 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Nail dystrophy, Myositis, Cachexia, Failure to thrive in infancy, Alopecia |
ORPHA:37042 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Systemic Sclerosis |
|
Irregular hyperpigmentation, Nail bed telangiectasia, Alopecia, Hypohidrosis, Flexion contracture... |
ORPHA:90291 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short palpebral fissure, Patchy alopecia, Short stature, Sparse hair, Upslanted palpebral fissure |
OMIM:617763 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Spondylolysis |
ORPHA:464321 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia |
ORPHA:169154 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... |
ORPHA:3214 |
| Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Downsla... |
ORPHA:958 |
| Degcags Syndrome |
|
Premature graying of hair, Sacral dimple, Hypopigmentation of hair, Hyperbilirubinemia, Abnormal ... |
OMIM:619488 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Het... |
ORPHA:3440 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Growth delay, Ptosis, Failure to thrive, Ataxia, Skeletal muscle atroph... |
OMIM:252010 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Downslanted palpebral fissures, Aplasia... |
ORPHA:261344 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Alopecia |
OMIM:304790 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Pigmentary retin... |
OMIM:613154 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hyperpigmentation of the skin, Conjugated hyperbilirubi... |
ORPHA:186 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Keratoconjunctivitis, Sparse hai... |
OMIM:158310 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Growth delay |
ORPHA:139466 |
| Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Synophrys, Short stature, Growth delay, Downslanted palpebral fi... |
OMIM:614294 |
| Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Alopecia |
OMIM:176670 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Ragged-red muscle fibers, Ptosis, Rhabdomyolysis, Failure to thrive, Ataxia |
OMIM:124000 |
| Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Loss of eyelashes, Reduced haptoglobin level,... |
ORPHA:79277 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Hemivertebrae, Long palpebral f... |
ORPHA:1780 |
| Adrenomyeloneuropathy |
|
Spastic gait, Distal lower limb muscle weakness, Frontal balding, Lip hyperpigmentation, Adrenoco... |
ORPHA:139399 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Hyperbilirubinemia, Sparse scalp hair, Cleft vertebral arch, Sparse eyelashes, Sparse... |
OMIM:210710 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Short neck |
OMIM:613610 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, High anterior hairline, Abnormal vertebral morphology, Abnormal ... |
ORPHA:280 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Nail dysplasia, Small nail, Highly arched eyebrow, Scoliosis, Up... |
OMIM:618454 |
| Hennekam-Beemer Syndrome |
|
Irregular hyperpigmentation, Scoliosis, Short stature, Camptodactyly of finger, Abnormality of sk... |
ORPHA:2135 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Onychogryposis, Alopecia |
ORPHA:79395 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Butterfly vertebrae, Elbow flexion contracture, ... |
OMIM:200980 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Long eyelashes, Horizontal eyebrow, Cafe-au-lait ... |
ORPHA:96121 |
| Brittle Cornea Syndrome 1 |
|
Scoliosis, Red hair, Spondylolisthesis |
OMIM:229200 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia, Thin nail, Highly arched eyebrow, Scoliosis, Low posterior hairl... |
ORPHA:261112 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Abnormality of hair texture, Proportionate short stature, Sparse eyelashes, Sparse b... |
ORPHA:2108 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Scoliosis, Long eyelashes, Sparse eyebrow, Short neck, Fine hair |
OMIM:300855 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, High nonceru... |
OMIM:277900 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Aplasia/Hypoplasia of the nails |
ORPHA:163979 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myositis, EMG: myopathic abnormalities, Proximal spinal mus... |
ORPHA:1320 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Gait ataxia, Failure to thrive, Ataxia, Pigmentary retinopathy |
ORPHA:255210 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Vertebral segmentation defect |
ORPHA:1120 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Hyperpigmentation of the skin, Scoliosis, Short stature, Abnormality of skin pigmen... |
ORPHA:50814 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hyperpigmentation of the skin, Hirsutism, Short stature, Polycystic ovaries, Testicular adrenal r... |
ORPHA:90795 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Kyphoscoliosis, Hypopigmentation of the skin, Sparse hair, Rhizo... |
OMIM:601803 |
| Dermatomyositis |
|
Inflammatory myopathy, Myositis, Abnormal hair quantity, Abnormal eyelid morphology, Abnormality ... |
ORPHA:221 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Bilateral ptosis, Kyphosis, Thoracic scoliosis, Cryptorchidism, Keratoconjunctivi... |
ORPHA:536532 |
| Cockayne Syndrome A |
|
Severe postnatal growth retardation, Pigmentary retinopathy, Gait disturbance, Kyphosis, Short st... |
OMIM:216400 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Decreased response to growth hormone stimulation test, Abnormality of the periung... |
ORPHA:293978 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin concentration, Hyperbilirubinemia |
OMIM:218700 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Absent eyelashes, Absent eyebrow, Ablepharon, Camptodactyly of finger, Cryptop... |
ORPHA:920 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, Scoliosis, Hirsutism, Camptodactyly, Syno... |
OMIM:301044 |
| Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Nail dystrophy, Small nail, Hypoplastic nipples, Absent nipple, Unconjugated hyperbilirubinemia, ... |
OMIM:620186 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Cachexia, Short stature, Camptodactyly of finger, Abnormal toena... |
ORPHA:3380 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Kyphoscoliosis, Waddling gait, Skeletal muscle atrophy, Epicanthus, Type 1 muscle fiber predomina... |
OMIM:614557 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Small for gestational age, Intrauterine growth retardation, Cholelithiasis |
OMIM:618775 |
| Biotinidase Deficiency |
|
Conjunctivitis, Ataxia, Alopecia |
OMIM:253260 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Ataxia, Generalized hyperpigmentati... |
ORPHA:3322 |
| Omenn Syndrome |
|
Failure to thrive, Hypoplasia of the thymus, Alopecia |
OMIM:603554 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Alopecia universalis, Absent fingernail, Anonychia |
OMIM:609638 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Hirsutism, Increased body weight, Enlarged polycystic ovaries... |
ORPHA:2298 |
| Ermine Phenotype |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... |
ORPHA:999 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:480520 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Inability to walk, Hypopigmentation of hair, Hypoproteinemia, Hypopigmentat... |
ORPHA:167 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Hyperconvex fingernails, Low posterior hairline, Kyphosis, Intrauterine growth r... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Delayed puberty, Hyperconvex fingernails, Low posterior hairline, Kyphosis, Intrauterine growth r... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Hyperconvex fingernails, Low posterior hairline, Kyphosis, Intrauterine growth r... |
ORPHA:99226 |
| Turner Syndrome |
|
Delayed puberty, Hyperconvex fingernails, Low posterior hairline, Kyphosis, Intrauterine growth r... |
ORPHA:881 |
| Dubowitz Syndrome |
|
Postnatal growth retardation, Hypoparathyroidism, Telecanthus, Spina bifida occulta, Scoliosis, S... |
ORPHA:235 |
| Singleton-Merten Syndrome 1 |
|
High anterior hairline, Scoliosis, Waddling gait, Decreased body weight, Short stature, Ptosis, T... |
OMIM:182250 |
| Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Scoliosis, Kyphosis, Short stature, Obesit... |
OMIM:203800 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Failure to thrive in infancy, Patchy alopecia |
OMIM:606367 |
| Chronic Graft Versus Host Disease |
|
Nail dystrophy, Abnormality of skin pigmentation, Onycholysis, Flexion contracture, Weight loss, ... |
ORPHA:99921 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Liver Disease, Severe Congenital |
|
Nail dystrophy, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia,... |
OMIM:619991 |
| Yellow Fever |
|
Low back pain, Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circul... |
ORPHA:99829 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Scoliosis, Abnormality of hair texture, Vertebral segmentation defect, ... |
ORPHA:96169 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Anterior hypopituitarism, Abnormal form of the vertebral bodies,... |
ORPHA:2162 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Curly eyelashes, Highly arched eyebrow, Elbow flexion contractur... |
OMIM:122470 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... |
ORPHA:79431 |
| Orofaciodigital Syndrome I |
|
Telecanthus, Short stature, Downslanted palpebral fissures, Ovarian cyst, Sparse hair, Epicanthus... |
OMIM:311200 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Hypopigmented skin patches, Hyperpigmentation of the skin, Abnor... |
ORPHA:2556 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Decreased response to growth hormone stimulation test, Trachyonychia |
OMIM:615577 |
| Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Short palpebral fissure, Scoliosis, Downslanted palpebral fissur... |
OMIM:208050 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... |
OMIM:203300 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Epicanthus, Choreoathetosis, Hydrocel... |
OMIM:614080 |
| Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia |
OMIM:557000 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Scoliosis, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Orofaciodigital Syndrome Type 1 |
|
Telecanthus, Brittle hair, Downslanted palpebral fissures, Ataxia, Sparse hair, Epicanthus, Pancr... |
ORPHA:2750 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia |
OMIM:229600 |
| Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Postnatal growth retardation, Small for gestational age, Small n... |
ORPHA:1596 |
| Brittle Cornea Syndrome |
|
Scoliosis, Abnormality of hair pigmentation, Gait disturbance |
ORPHA:90354 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair |
ORPHA:53271 |
| Pericardial And Diaphragmatic Defect |
|
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm |
ORPHA:2847 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Bifid thoracic vertebrae, Eyelid coloboma, Hypoplastic toenails |
ORPHA:268249 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Gait disturbance, Giant... |
OMIM:214500 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... |
OMIM:203100 |
| Reynolds Syndrome |
|
Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Skeletal myopathy, Abnormal calf... |
ORPHA:565612 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Keratoconjunctivitis sicca, Hyperpigmentation of the skin, Alopecia, Pa... |
ORPHA:797 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Short stature, Growth delay |
OMIM:613309 |
| Scalp-Ear-Nipple Syndrome |
|
Narrow palpebral fissure, Nail dysplasia, Palpebral edema, Telecanthus, Breast aplasia, Patchy al... |
OMIM:181270 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Lumbosacral hirsutism, Postnatal growth retardation, Spina bifid... |
OMIM:135900 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Telecanthus, Vertebral segmentation defect, Short stature, Ptosi... |
ORPHA:2745 |
| Hardikar Syndrome |
|
Thoracolumbar scoliosis, Hyperbilirubinemia, Pigmentary retinopathy |
OMIM:301068 |
| Cockayne Syndrome B |
|
Postnatal growth retardation, Severe failure to thrive, Abnormal hair morphology, Pigmentary reti... |
OMIM:133540 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Nail dystrophy, Difficulty walking, Short stature, Failure to thrive, Hypohidrosis, Sparse hair, ... |
ORPHA:158668 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling |
OMIM:160980 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Nail dysplasia, Nail dystrophy, Spina bifida occulta, Brittle ha... |
OMIM:305600 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Short stature, Severe short stature, Diaphragmatic eventration, ... |
OMIM:601186 |
| Autosomal Dominant Hypocalcemia |
|
Irregular hyperpigmentation, Abnormal fingernail morphology, Abnormality of the nail, Alopecia |
ORPHA:428 |
| C Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Abnormal hair pattern, Epicanthus, Aplasia/Hypopl... |
ORPHA:1308 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia, Elbow flexion contracture |
OMIM:618022 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Rhizomelia, Hypopigmentation of hair, Abnormal form of the verte... |
ORPHA:818 |
| Distal Deletion 19P |
|
Thick eyebrow, Alopecia |
ORPHA:96129 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Muscular dystrophy, Rhabdomyosarcoma, Multiple cafe-au-lait spots, Short stature, Abnormality of ... |
ORPHA:1052 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Neurooculorenal Syndrome |
|
Highly arched eyebrow, Conjugated hyperbilirubinemia |
OMIM:620305 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Vitiligo, Keratoconjunctivitis sicca, Anterior pituitary dysgenesis |
ORPHA:227990 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Scoliosis, Absent gallbladder |
ORPHA:1335 |
| 3Q29 Microdeletion Syndrome |
|
Gait disturbance, Six lumbar vertebrae, Abnormality of skin pigmentation, Downslanted palpebral f... |
ORPHA:65286 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Intrauterine growth retardation, Adrenal gland agenesis |
OMIM:611812 |
| Acrofacial Dysostosis 1, Nager Type |
|
Congenital diaphragmatic hernia, Scoliosis, Short stature, Downslanted palpebral fissures, Sparse... |
OMIM:154400 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Delayed puberty, Curly eyelashes, Highly arched eyebrow, Severe ... |
ORPHA:199 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Anterior pituitary dysgenesis, Autoimmune hypoparathyroidism, Vitiligo, Keratoconjunctivitis sicc... |
ORPHA:227982 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Butterfly vertebrae, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Sc... |
OMIM:308205 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Abnormal eyelid morphology,... |
ORPHA:2396 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Fused cervical vertebrae, Telecanthus, Scoliosis, Decreased test... |
OMIM:157800 |
| Viss Syndrome |
|
Ectropion, Butterfly vertebrae, Contracture of the proximal interphalangeal joint of the 2nd toe,... |
OMIM:619472 |
| Proteus Syndrome |
|
Irregular hyperpigmentation, Abnormal form of the vertebral bodies, Cachexia, Kyphosis, Thymus hy... |
ORPHA:744 |
| Poland Syndrome |
|
Congenital diaphragmatic hernia, Retinal hamartoma, Aplasia of the pectoralis major muscle, Spina... |
ORPHA:2911 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Nail dysplasia, Small nail, Scoliosis, Vertebral segmentation de... |
ORPHA:373 |
| Bloom Syndrome |
|
Severe postnatal growth retardation, Hypopigmentation of the skin, Patchy alopecia, Sparse eyelas... |
ORPHA:125 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Abnormal form of the vertebral bodies, Abnormally ossified vertebrae, Downslan... |
ORPHA:2636 |
| Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Cafe-au-lait spot, Abnormality of skin pigmentation, Growth delay,... |
ORPHA:96176 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Small for gestational age |
ORPHA:2260 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... |
ORPHA:238468 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia |
OMIM:620376 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia, Epicanthus, Ovarian gonadob... |
OMIM:194080 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Perlman Syndrome |
|
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Cryptorchidism, La... |
OMIM:267000 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Ge... |
ORPHA:84064 |
| Choreoacanthocytosis |
|
Falls, Distal amyotrophy, Blepharospasm, Muscle fiber atrophy, Peroneal muscle atrophy, Loss of a... |
ORPHA:2388 |
| Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Abnormal eyelash morphology, Abnormality of hair texture, Aplasia/Hypoplasia of the ... |
ORPHA:286 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Neonatal death, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circ... |
OMIM:619534 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Alopecia |
OMIM:269200 |
| Vici Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Elevated circulating creatine kinase conc... |
OMIM:242840 |
| Kikuchi-Fujimoto Disease |
|
Palpebral edema, Alopecia, Ataxia, Weight loss, Enlargement of parotid gland |
ORPHA:50918 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Streak ovary, Decreased t... |
ORPHA:3464 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic fingernails, Hypermelanotic macule, Loss of eyelashes, Severe failure to thrive, Dystr... |
ORPHA:740 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Short palpebral fissure, High anterior hairline, Decreased respo... |
OMIM:613406 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Athetosis, Iris hypopigmentation, Ataxia, Ocular albinism |
ORPHA:2719 |
| Loeys-Dietz Syndrome 6 |
|
Congenital diaphragmatic hernia, Intervertebral disk degeneration, Scoliosis, Camptodactyly, Shor... |
OMIM:619656 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Thick eyebrow, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Ring Chromosome 7 Syndrome |
|
Bilateral ptosis, Hyperpigmented nevi, Highly arched eyebrow, Severe intrauterine growth retardat... |
ORPHA:1449 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Abnormality of the nail, Growth delay, Failure to thrive, Anonychia, Paronychia, ... |
ORPHA:79404 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Sparse hair, Fine hair, Choreoathetosis, Alopecia |
OMIM:241080 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... |
ORPHA:447 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Alkaptonuria |
|
Irregular hyperpigmentation, Black pigment gallstones, Abnormality of the nail, Scoliosis, Thicke... |
ORPHA:56 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:163746 |
| Sympathetic Ophthalmia |
|
Vitiligo, Poliosis, Alopecia |
ORPHA:79098 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Scoliosis, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Rhizomelia, Hyperlordosis, Absent vertebra, Arthrogryposis multi... |
ORPHA:63259 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Scoliosis, Kyphosis, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hyperpigmentation of the skin, Scoliosis, Stellate iris, Hypopigmentati... |
ORPHA:177907 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the nail, Hypocalcemia, Hypoplastic nipples, Sparse scalp hair, Increased VLDL cho... |
OMIM:243800 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Spina bifida occulta, Abnormal form of t... |
ORPHA:233 |
| African Trypanosomiasis |
|
Akinesia, Difficulty walking, Abnormal prolactin level, Gait disturbance, Weight loss, Conjunctiv... |
ORPHA:3385 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopigmentation, Me... |
ORPHA:79430 |
| Kindler Epidermolysis Bullosa |
|
Ectropion, Camptodactyly of finger, Abnormality of skin pigmentation, Abnormal toenail morphology... |
ORPHA:2908 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Scoliosis, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Scoliosis, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98793 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Short stature |
OMIM:618846 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokalemia, Dec... |
OMIM:219800 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Scoliosis, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Scoliosis, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:177901 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Anterior pituitary agenesis, Pancreatic hypoplasia, Pancreatic a... |
ORPHA:2255 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Pancreatic hypoplasia, Aplasia of the left hemidiaphragm, Failur... |
OMIM:600001 |
| Systemic Lupus Erythematosus |
|
Weight loss, Alopecia |
ORPHA:536 |
| Prader-Willi Syndrome |
|
Scoliosis, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:739 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Facial hypotonia, Scoliosis, Vertebral segmentation defect, Dias... |
OMIM:312870 |
| Relapsing Polychondritis |
|
Conjunctivitis, Alopecia |
ORPHA:728 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Abnormal testis morphology, Short stature |
ORPHA:991 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak |
ORPHA:1974 |
| Adams-Oliver Syndrome 1 |
|
Small nail, Supernumerary nipple, Alopecia |
OMIM:100300 |
| Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Agenesis of the diaphragm, Adrenal gland dysgenesis |
OMIM:236680 |
| Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
