Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... |
OMIM:158600 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Nonaka Myopathy |
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Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Welander Distal Myopathy |
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Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Myasthenic Syndrome, Congenital, 17 |
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Difficulty walking, Type 1 muscle fiber predominance, Ptosis |
OMIM:616304 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Oliver-Mcfarlane Syndrome |
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Alopecia, Central heterochromia, Small for gestational age, Decreased response to growth hormone ... |
OMIM:275400 |
Spinal Muscular Atrophy, Infantile, James Type |
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Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Type 1 muscle fiber pred... |
OMIM:619042 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Mitochondrial Myopathy With Diabetes |
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Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne... |
OMIM:500002 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... |
OMIM:608099 |
Myasthenic Syndrome, Congenital, 14 |
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Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-... |
OMIM:616228 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in muscle fiber diamete... |
OMIM:300717 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Spinal Muscular Atrophy, Type Iv |
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Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
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Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy |
OMIM:616209 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
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Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Myopathy, Myofibrillar, 5 |
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Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... |
OMIM:609524 |
Oculopharyngodistal Myopathy 2 |
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Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea... |
OMIM:618940 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Limb-girdle muscle weaknes... |
OMIM:620386 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
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Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy... |
ORPHA:280333 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Thenar muscle atrophy, Dysmetria, Premature graying of hair, Dysdiadochokinesis, Distal lower lim... |
OMIM:619903 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Proximal muscle weakness in upper limbs, Scapular winging, Ptosis, Centrally nucleated skeletal m... |
OMIM:619733 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Nemaline Myopathy 5C, Autosomal Dominant |
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Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadricep... |
OMIM:620389 |
Myasthenic Syndrome, Congenital, 13 |
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Muscle fiber tubular inclusions, Scoliosis, Ptosis |
OMIM:614750 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Skeletal muscle atrophy, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Growth delay, ... |
OMIM:615704 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... |
OMIM:160500 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Bethlem Myopathy 2 |
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Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Increased variability in muscle fiber di... |
OMIM:300718 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Oculopharyngodistal Myopathy 3 |
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Ptosis, Internally nucleated skeletal muscle fibers, Ataxia, Increased variability in muscle fibe... |
OMIM:619473 |
Multiminicore Myopathy |
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Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima... |
ORPHA:598 |
Vernal Keratoconjunctivitis |
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Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Proximal muscle weakness in upper limbs, Inability to walk, Ragged-red muscle fibers, Increased i... |
ORPHA:276435 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle fibers, Proximal muscle... |
ORPHA:457050 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Atopic Keratoconjunctivitis |
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Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Rotor Syndrome |
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Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:3111 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
Gelatinous Drop-Like Corneal Dystrophy |
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Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Congenital Myopathy With Myasthenic-Like Onset |
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Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... |
ORPHA:424107 |
Childhood-Onset Nemaline Myopathy |
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Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Congenital Myopathy 23 |
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Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Fa... |
OMIM:609285 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Galactosialidosis |
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Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology |
ORPHA:351 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Lumbar hyperlor... |
ORPHA:353 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Myo... |
OMIM:616313 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Alopecia, Ataxia, Pigmentary retinopathy, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Tietz Syndrome |
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Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle musc... |
ORPHA:86812 |
Distal Myopathy With Anterior Tibial Onset |
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Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Congenital Myopathy 20 |
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Skeletal muscle atrophy, Scapular winging, Epicanthus, Failure to thrive, Elbow contracture, Cent... |
OMIM:620310 |
Myopathy, Myofibrillar, 3 |
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Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Short stature, Failure to thrive in infancy, Increased intramyocellular lipid droplets, I... |
OMIM:619065 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Miyoshi Muscular Dystrophy 1 |
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Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
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Increased LDL cholesterol concentration, Fair hair, Gait ataxia, Developmental cataract |
OMIM:618808 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia |
ORPHA:3177 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
Sandhoff Disease, Adult Form |
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Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait a... |
ORPHA:309169 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Hyperbilirubinemia |
OMIM:618660 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
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Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Skeletal muscle atrophy, Alopecia, Limb joint contracture, Short stature, Kyphoscoliosis, Melanoc... |
OMIM:612079 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia, Short stature |
ORPHA:551 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ptosis |
ORPHA:270 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Congenital Myopathy 3 With Rigid Spine |
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Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
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Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Ataxia, Alopecia of scalp, Toenail dysplasia |
ORPHA:1532 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Type 1 mus... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb... |
OMIM:616924 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Small for gestational age, Kyphoscoliosis, Weakness of facial musculature, Centrally nucleated sk... |
OMIM:618484 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Scarring alopecia of scalp, Motheaten muscle fibers, Nail dystrophy, Muscular dyst... |
OMIM:226670 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Steppage gait, Gait di... |
OMIM:607684 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Lumbar hy... |
OMIM:167320 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Ptosis |
OMIM:610542 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu... |
OMIM:617069 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hyperpigmentation of the skin, Camptodactyly of finger, Hypopigme... |
ORPHA:2251 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis |
OMIM:609283 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Alopecia, Telecanthus, Severe short stature, Flexion contracture, Severe... |
OMIM:203550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: m... |
OMIM:608423 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
Winchester Syndrome |
|
Kyphosis, Corneal opacity, Hirsutism |
OMIM:277950 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha... |
OMIM:620285 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... |
OMIM:617066 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic... |
OMIM:278730 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Steppage gait, Difficulty wa... |
ORPHA:399086 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Failure to ... |
OMIM:618276 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee f... |
OMIM:610687 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... |
OMIM:603511 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb... |
ORPHA:353327 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Flexion contracture, Growth delay, Scoliosis, Sparse ... |
ORPHA:2850 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... |
OMIM:610099 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Kyphosis, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Elevated circulating C-reactive protein concentration, Corneal neovas... |
OMIM:617388 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
OMIM:545000 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... |
ORPHA:98911 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Kyphosis, Scoliosis |
ORPHA:2047 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... |
OMIM:255200 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis |
OMIM:617070 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle fibers, Increa... |
OMIM:255320 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Kyphoscoliosis, Flexion contracture, Upslanted palpeb... |
OMIM:215100 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Opacification of t... |
OMIM:158310 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Oculopharyngodistal Myopathy 4 |
|
Ptosis, Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscl... |
OMIM:619790 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Thick hair, Short stature, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Pigme... |
OMIM:617675 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Kyphosis, Flexion contractu... |
OMIM:254090 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619542 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... |
OMIM:619947 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Ragged-red muscle fibers, Ataxia, Athetosis |
OMIM:615159 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle ... |
ORPHA:34515 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... |
ORPHA:79397 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Flexion contracture, Growth delay, Long eyelashes, Scoliosis, Incre... |
OMIM:619026 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking |
OMIM:618242 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Ptosis |
OMIM:125250 |
Hijazi-Reis Syndrome |
|
Astigmatism, Gait disturbance, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation |
OMIM:237450 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,... |
ORPHA:170 |
Infantile Sialic Acid Storage Disease |
|
Epicanthus, Conjugated hyperbilirubinemia, Congestive heart failure, Fair hair, Hypopigmentation ... |
OMIM:269920 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... |
OMIM:613157 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Ataxia, Ragged-red muscle fibers, A... |
ORPHA:480 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet... |
OMIM:620161 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Short neck, Limbal stem cell deficiency, Nail dystrophy |
OMIM:615225 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Epicanthus, Severe short statur... |
ORPHA:3242 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Centrally nucleated skeletal muscle fibers, Difficulty walking, Increased variability in ... |
ORPHA:401768 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Myopathy, Type 1 muscle fiber predomi... |
OMIM:603034 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Morquio Syndrome C |
|
Platyspondyly, Corneal opacity |
OMIM:252300 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait... |
ORPHA:98855 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait... |
ORPHA:98863 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Hyperlord... |
ORPHA:3068 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... |
ORPHA:596 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Elbow fl... |
ORPHA:206546 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Waddling gait... |
ORPHA:98853 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Facial palsy, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predominanc... |
OMIM:161800 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Thoracic scoliosis, Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal musc... |
OMIM:255160 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Flexion contra... |
ORPHA:171436 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Bilateral ptosis, Ragged-red muscle fibers, Un... |
OMIM:616479 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Bilateral ptosis, Ragged-red muscle fibers, Increased vari... |
OMIM:258450 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal muscle fibers, Kypho... |
OMIM:248800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Limb-girdle muscle weakness, Flexi... |
OMIM:609308 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Kid Syndrome |
|
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Scarring alo... |
ORPHA:477 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis, Ptosis |
OMIM:617235 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, Scoliosis, ... |
ORPHA:178148 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Thick hair, Increased variability in muscle fiber diameter, Dysmetria, Increased m... |
ORPHA:502423 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Highly arched eyebrow, Hyperhidrosis, Type 2 muscle fiber predominance, Increased variability in ... |
OMIM:619173 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scoliosis, Weakness of facial ... |
OMIM:618416 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta... |
OMIM:620351 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Scoliosis, Loss of ambulation, Failure... |
OMIM:619518 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Ane Syndrome |
|
Alopecia, Multiple joint contractures, Short stature, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:157954 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Harel-Yoon Syndrome |
|
Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Upslanted palpebral fissure, ... |
OMIM:617183 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis |
ORPHA:1473 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohid... |
ORPHA:1882 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... |
ORPHA:597 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Short stature, Ragged-red muscle fibers, Flexion contracture, Pigmentary retinopathy, Lef... |
OMIM:252011 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hypertonia, Ptosis |
OMIM:610246 |
Sézary Syndrome |
|
Skeletal muscle atrophy, Alopecia, Nail dystrophy, Irregular hyperpigmentation, Ectropion |
ORPHA:3162 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Difficulty walking |
OMIM:500003 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Growth delay, Generalized amyotrophy, Failure to thrive, Ptosis |
OMIM:613561 |
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 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Epicanthus, Alopecia, Short stature, Flexion contracture, Scoliosis, Camptodactyly |
ORPHA:88630 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Failure to thrive, Nemaline bodies, Intrauterine growth retardation |
OMIM:618246 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle... |
OMIM:608930 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Epicanthus, Alopecia, Brittle hair, Short stature, Upslanted palpebral fissure, Intrauterine grow... |
ORPHA:50812 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Increased muscle lipid c... |
ORPHA:324604 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hyperbilirubinemia, Small nail, Blepharophim... |
OMIM:619075 |
Erythrokeratodermia Variabilis |
|
Alopecia, Short stature, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnormalit... |
ORPHA:317 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Multiple cafe-au-... |
ORPHA:2316 |
Isolated Polycystic Liver Disease |
|
Back pain, Gastrointestinal hemorrhage, Increased total bilirubin |
ORPHA:2924 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Scapular winging, Premature graying of body hair, Multiple lentigines, Scoliosis, Loss of ambulat... |
OMIM:270750 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies |
ORPHA:2370 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive, Abnormal vertebral morphology |
ORPHA:337 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Alopecia, Short stature, Alopecia universalis |
OMIM:600705 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... |
OMIM:602562 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Generalized am... |
ORPHA:52430 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Skeletal muscle atrophy, Epicanthus, Sparse eyelashes, Telecanthus, Kyphoscoli... |
ORPHA:75496 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy,... |
ORPHA:254886 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Lagophthalmos, Bilateral ptosis, Inability to walk, Decreased LDL cholesterol concentration, Corn... |
ORPHA:404454 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Alopecia, Ataxia, Ectropion |
OMIM:275630 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Mucolipidosis Type Iii |
|
Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Joint contracture of the ... |
OMIM:175700 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Back pain, Increased total bilirubin |
OMIM:174050 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... |
OMIM:601462 |
Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis, Lower lim... |
ORPHA:99013 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Hemivertebrae, ... |
ORPHA:370079 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cr... |
ORPHA:3051 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Short stature, Cachexia |
ORPHA:2574 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, Type 1 muscle fiber predominance, Nemaline bodies |
OMIM:617336 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Failure to thrive, Hyperlordosis, Ragged-red muscle fibers, Generalized limb mu... |
OMIM:600462 |
Hypomelanosis Of Ito |
|
Epicanthus, Alopecia, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis |
OMIM:300337 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, S... |
OMIM:229200 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Ataxia, Kyphoscoliosis |
OMIM:136300 |
Benign Samaritan Congenital Myopathy |
|
Epicanthus, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Kyphosis, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyotrophy, Pt... |
OMIM:615084 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Ataxia, Dysmetria, Impaired tandem gait |
OMIM:619028 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... |
OMIM:619334 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Progressive congenital scoliosis, Cryptorchidism, Abnorma... |
ORPHA:168572 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Spinal canal stenosis, Cardiomyopathy, Abnormal vertebral morphology, Generalize... |
ORPHA:93476 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Decreased response to growth hormone stimulation test, Postnatal growth retardation... |
OMIM:606407 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Gait ataxia, Upslanted palpebral fissure, Scoliosis, Hypertrophic card... |
ORPHA:496790 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Hypoplastic to... |
ORPHA:2930 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Flexion contracture, Low posterior hairline, Myopathy, Ce... |
OMIM:616549 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy, Ptosis |
OMIM:605809 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesi... |
ORPHA:284180 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Abnormal hair morphology, ... |
ORPHA:894 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Broad-based gait, A... |
ORPHA:14 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, S... |
OMIM:252605 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Ptosis, Short stature, Central diaphragmatic hernia, Hirsutism, Macroglossia, ... |
OMIM:614608 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Low anterior hairline, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skeletal muscle hypertrophy, Myopa... |
ORPHA:2348 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Ey... |
ORPHA:1234 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis |
OMIM:176100 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... |
OMIM:616299 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Ectropion, Ataxia, Short stature, Obesity, Myopathy, Shoulder girdle muscle weakness, I... |
ORPHA:98907 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion |
OMIM:242300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Butterfly vertebrae, Kerat... |
OMIM:308205 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Ptosis |
OMIM:254210 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigment... |
ORPHA:79476 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Hyperconvex fingernails, Myopathy, Hypoplastic fingernail |
ORPHA:257 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... |
OMIM:152950 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal hirsuti... |
OMIM:612949 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis |
ORPHA:663 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Diffi... |
ORPHA:369840 |
Hemifacial Atrophy, Progressive |
|
Ataxia, Poliosis, Kyphosis, Horner syndrome, Patchy alopecia, Blepharophimosis |
OMIM:141300 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... |
OMIM:620278 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Glycogen Storage Disease Xii |
|
Epicanthus, Elevated circulating creatine kinase concentration, Short neck, Low posterior hairlin... |
OMIM:611881 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Alopecia, Short stature, Rhizomelia, Growth delay, Scoliosis, Spina bifida occulta, S... |
ORPHA:177 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Impair... |
OMIM:619574 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Congenital diaphragmatic hernia, Concave nail, Cryptorchidism, B... |
OMIM:300978 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Unsteady gait, Limb ataxia, Distal amyotrophy, Gait disturbance, Difficulty walking, Tr... |
ORPHA:412057 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Ptosis, Ataxia, Broad-based gait, Centrally nucleated ... |
OMIM:607459 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cryptorchidism, Hypopi... |
ORPHA:1647 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Platyspondyly, Scoliosis, Opacification of the corneal stroma, Anterior beaking... |
OMIM:230650 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Myopathy, Increased intramyocellular l... |
OMIM:255125 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, H... |
ORPHA:1867 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... |
OMIM:620011 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Bathing Suit Ichthyosis |
|
Alopecia, Multiple joint contractures, Hypohidrosis, Nail dystrophy, Sparse hair, Ectropion |
ORPHA:100976 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... |
ORPHA:319514 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Ske... |
ORPHA:79083 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
15Q24 Microdeletion Syndrome |
|
Epicanthus, Small for gestational age, Decreased response to growth hormone stimulation test, Con... |
ORPHA:94065 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Abnormal eyelid morphology, Short... |
ORPHA:567 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Upper eyelid edema, Tip-toe gait, Cafe-au-lait spot, Neonatal hyperbilirubinemia, Apla... |
ORPHA:293939 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature... |
ORPHA:600 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Dista... |
ORPHA:300605 |
Adrenoleukodystrophy |
|
Alopecia, Limb ataxia, Truncal ataxia, Lower limb muscle weakness, Hyperpigmentation of the skin |
OMIM:300100 |
Optic Atrophy 11 |
|
Ataxia, Short stature, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Increased variability... |
OMIM:617302 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Low posterior hairline, Congenital bilateral ptosis, Cafe-au-lait spot, Ne... |
ORPHA:73272 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Conjun... |
ORPHA:2890 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Hypopigmented skin patches, Irregular hyperpigmentation, Ab... |
ORPHA:2584 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Kyphosis, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculat... |
ORPHA:352447 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
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Muscle fiber atrophy, Failure to thrive, Flexion contracture |
OMIM:620240 |
Warburg-Cinotti Syndrome |
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Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea... |
OMIM:618175 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
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Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Hyperlordosis, Flexion contracture, Skeletal muscle h... |
OMIM:613327 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Small hypothenar eminenc... |
ORPHA:2232 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, Abnormal left v... |
OMIM:301056 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe... |
ORPHA:1520 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod... |
OMIM:618961 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... |
OMIM:611588 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
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Alopecia, Nail dystrophy |
OMIM:616487 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
Congenital Ichthyosiform Erythroderma |
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Alopecia, Short stature, Hypohidrosis, Failure to thrive, Abnormality of the nail, Ectropion |
ORPHA:79394 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Elevated circulating long chain fatty acid concentration, Epicanthus, Abnormality of the hairline... |
OMIM:614886 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hyp... |
OMIM:616866 |
Short Syndrome |
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Posterior embryotoxon, Telecanthus, Corneal opacity, Alopecia, Abnormal pupil morphology, Hypopla... |
ORPHA:3163 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
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Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue |
OMIM:602541 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hypopigmentation of the skin, Lumbar hyperlordosis, Myopathy, Abdominal ... |
OMIM:615980 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Increased serum bile acid concentration, Increased total iron binding capaci... |
OMIM:616278 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
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Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Short neck, Aortic valve stenosis, Spondylolisthesis |
OMIM:607016 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin |
ORPHA:2786 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor... |
OMIM:175780 |
Marie Unna Hereditary Hypotrichosis |
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Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Thick hair, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Do... |
ORPHA:357058 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Ataxia, Anterior pituitary hypoplasia, Postnatal growth retardation, Proximal muscle we... |
ORPHA:453533 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Fetal Alcohol Syndrome |
|
Telecanthus, Epicanthus, Short stature, Congenital diaphragmatic hernia, Vertebral segmentation d... |
ORPHA:1915 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Sialidosis Type 2 |
|
Kyphosis, Corneal opacity, Ataxia |
ORPHA:87876 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Congenital diaphragmatic hernia, Short stature, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Oculopharyngodistal Myopathy 1 |
|
Ptosis, Autophagic vacuoles, Facial palsy, Ataxia, Bilateral ptosis, Weight loss, Distal amyotrop... |
OMIM:164310 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Ataxia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnor... |
ORPHA:834 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
Lathosterolosis |
|
Epicanthus, Cataract, Lumbosacral meningocele, Abnormal circulating cholesterol concentration, Op... |
OMIM:607330 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ... |
ORPHA:897 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro... |
OMIM:616353 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Narrow palpebral fissure, Small nail, Limb hypertonia |
OMIM:614219 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, G... |
ORPHA:57 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Athetosis, Distal amyotrophy, Loss of ambulation, Fiber type grouping |
OMIM:271245 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Gait disturba... |
ORPHA:812 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Difficulty walking, Distal lower limb muscle... |
OMIM:500013 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Ataxia, Dysmetria, Abnormal form of the vertebral bodies, Generalized ... |
ORPHA:93399 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypop... |
ORPHA:33445 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Ataxia, Gait disturbance |
ORPHA:1349 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hyperpigmentation of t... |
OMIM:618892 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Broad... |
ORPHA:2959 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... |
OMIM:614170 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Hyperpigmentation of the skin, Depigmentation/hyperpigmen... |
ORPHA:79396 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Short neck, Blepharop... |
ORPHA:284160 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Failure to thrive |
OMIM:210210 |
Zaki Syndrome |
|
Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Hypoplastic to... |
OMIM:619648 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Gait disturbance, EMG: myopathic abnormalities, P... |
OMIM:609286 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Thick eyebrow, Corneal opacity, Anterior beaking of lower thoracic vertebrae, Short n... |
OMIM:253220 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Kyphosis, Moderate postnatal growth retardation, Hypohidrosis, Up... |
ORPHA:1005 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... |
ORPHA:298 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Nail dystrophy, Anony... |
ORPHA:79402 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Hypertension, Corneal opacity |
OMIM:166300 |
13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptorchidism, Obesity, Upper ey... |
ORPHA:412035 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Short neck, Kyphosis, Scoliosis |
ORPHA:61 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... |
ORPHA:2095 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Ptosis |
ORPHA:70595 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Patchy alopecia, Multiple cafe-au-lait sp... |
ORPHA:85279 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Short stature, Congenital diaphragmatic hernia, Sparse eyebrow, Low posterior hairlin... |
OMIM:606164 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Facial hypotonia, Short stature, Cryptorchidism, Flexion contractur... |
OMIM:300534 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Sparse eyelashes, Short stature, Abnormal hair pattern, Kyphoscoli... |
ORPHA:35173 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morph... |
ORPHA:1764 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Dystr... |
OMIM:308800 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Posterior embryotoxon, Neonatal death, Increased circulating very ... |
OMIM:614887 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... |
OMIM:614594 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Epicanthus, Small for gestational age, Ataxia, Type 2 muscle fiber predo... |
OMIM:615471 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Abnormal cornea morphology, Scoliosis, Hypophosphatemia, Iris coloboma |
ORPHA:2611 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:411515 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Ataxia, Short stature, Ragged-red muscle fibers, Pigmentary retinopathy, Ptosis |
OMIM:530000 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Epicanthus, Alopecia, Supernumerary nipple, Truncal obesity, Abnormal vertebral morphology |
ORPHA:3224 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... |
OMIM:620080 |
Squalene Synthase Deficiency |
|
Epicanthus, Increased circulating farnesol concentration, Decreased LDL cholesterol concentration... |
OMIM:618156 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Brushfield ... |
OMIM:614866 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Ptosis |
OMIM:616720 |
Terminal Osseous Dysplasia |
|
Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra... |
OMIM:300244 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Camptodactyly of finger, Supernumerary nipple, Short st... |
ORPHA:464 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Short stature, Vitiligo |
OMIM:221350 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity, Angina pectoris |
ORPHA:79292 |
Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Abnormality of skin pigmentation, Contractures of the lar... |
ORPHA:2457 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Elevated circulating creatine kinase concentration, Hypoplastic toenails, Decreased pla... |
OMIM:608836 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Waddling gait |
ORPHA:2788 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty, H... |
ORPHA:90154 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea... |
ORPHA:90153 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Hypohidrosis, Dystrophic toenail, Down... |
ORPHA:3253 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Vertebral segmentation defect, Short stature, Congenital diaphragmatic hernia |
ORPHA:1166 |
Cebalid Syndrome |
|
Thick eyebrow, Congenital diaphragmatic hernia, Downslanted palpebral fissures, Highly arched eye... |
OMIM:618774 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H... |
ORPHA:381 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Conjunctivitis, Nail dyst... |
OMIM:612843 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Cholelithiasis, Increased variability in muscle fiber diameter |
OMIM:232800 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Orbital cyst, Eyelid coloboma |
OMIM:164180 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Abnormality of the anterior pituitary, Upslanted palpebral... |
ORPHA:75389 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Flexion contracture, Weight loss, Premature graying of hair, ... |
ORPHA:1979 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypoplastic toenails, Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Localized Junctional Epidermolysis Bullosa |
|
Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro... |
ORPHA:251393 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Intellectual Disability-Strabismus Syndrome |
|
Epicanthus, Telecanthus, Failure to thrive, Decreased response to growth hormone stimulation test... |
ORPHA:363528 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Thoracic scoliosis, Macroglossia, Hypoplasia of the thymus, Increased variability in... |
OMIM:617022 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Flexion contracture... |
OMIM:614008 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Ataxia, Ocular albini... |
ORPHA:2719 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Nuclear cataract |
OMIM:608885 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne... |
ORPHA:425 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Hypopigmenta... |
OMIM:309400 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Short neck, Inability to walk, Synophrys, Hirsutism, Upslanted palpe... |
ORPHA:488632 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Ovoid vertebral bodies, Ataxia, Hyperlordosis, Hypoplasia of the odontoid proces... |
OMIM:253010 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Thick eyebrow, Short stature, Synophrys, Scoliosis, Intrauterine growth ... |
ORPHA:94063 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Ptosis |
OMIM:616239 |
Gm1 Gangliosidosis |
|
Corneal opacity, Ataxia, Hyperlordosis, Kyphosis, Congestive heart failure, Unsteady gait, Abnorm... |
ORPHA:354 |
3Mc Syndrome 3 |
|
Sacral dimple, Corneal opacity, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis, Growth delay, Scoliosis, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Short neck, Bilateral ptosis, Hypoplasia of the odontoid p... |
OMIM:607014 |
Monosomy 18P |
|
Epicanthus, Alopecia, Short stature, Kyphoscoliosis, Low posterior hairline, Ptosis |
ORPHA:1598 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Conjunctivitis, Cholelithiasis, Verte... |
OMIM:263700 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... |
ORPHA:352731 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Ti... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Ptosis, Ataxia, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Ti... |
ORPHA:98914 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Weight loss, Growth delay, Keratoconjunctivitis |
ORPHA:79242 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Coarse hair, Thick eyebrow |
ORPHA:585 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation... |
OMIM:256710 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:261102 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Onycholysis, Pterygium |
ORPHA:525 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Proximal amyotro... |
ORPHA:189427 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Genera... |
ORPHA:163956 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Growth delay, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Corneal opacity, Hypermelanotic macule, Ovoid vertebral bodies, Short neck,... |
ORPHA:1830 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature, Hypopigmented skin patches, Weight loss, Conjunctivitis, Failure to thrive |
ORPHA:47 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Short neck, Telangiectasia, Pigmentary retinopathy, Frontal upsweep of h... |
OMIM:612582 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Gait disturbance, Corneal opacity, Ataxia |
ORPHA:578 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ... |
ORPHA:978 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ptosis, Ataxia, Choreoathetosis, ... |
ORPHA:506 |
Greig Cephalopolysyndactyly Syndrome |
|
Telecanthus, Congenital diaphragmatic hernia |
ORPHA:380 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ectropion |
OMIM:242510 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Hypokalemia, Gait disturbance, Hypophosphatemia |
ORPHA:213 |
Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Abnormal circulating porphyrin concentration, Scarring alopecia of ... |
ORPHA:79277 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Flexion contracture, Growth delay, Sparse hair, Mottled pigmentation |
OMIM:608612 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia |
ORPHA:1667 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic ... |
OMIM:618373 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Telecanthus, Epicanthus, Congenital diaphragmatic hernia, Frontotemporal hypertrichosis, Flexion ... |
OMIM:263210 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait ... |
ORPHA:582 |
Polymyositis |
|
Weight loss, Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha... |
ORPHA:2269 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Kyphosis, Mitral regurgitation, Scoliosis, Pulmonary arter... |
OMIM:607015 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Alpha-Heavy Chain Disease |
|
Growth delay, Alopecia |
ORPHA:100025 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen... |
ORPHA:2221 |
Hypermanganesemia With Dystonia 1 |
|
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... |
OMIM:613280 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Thoracic kyphosis, Opacification of the corneal epithelium |
OMIM:270200 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Short stature, Cachexia, Kyphosis, ... |
ORPHA:1969 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
Hepatoportal Sclerosis |
|
Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Gastrointestinal hemorrhage |
ORPHA:64743 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal eyelid morphology, Pa... |
ORPHA:37 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis |
OMIM:619208 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Corneal opacity, Kyphoscoliosis, Hypophosphatemic rickets, Hypopigmentation of the skin |
OMIM:163200 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:290 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Growth delay, Small nail... |
OMIM:242100 |
Donnai-Barrow Syndrome |
|
Widow's peak, Downslanted palpebral fissures, Congenital diaphragmatic hernia |
ORPHA:2143 |
Macs Syndrome |
|
Alopecia, Epicanthus, Palpebral edema, Short stature, Sparse eyebrow, Cryptorchidism, Scoliosis, ... |
OMIM:613075 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Ptosis |
OMIM:619424 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... |
ORPHA:17 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Increased total bilirubin |
ORPHA:90037 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Ataxia, Dysmetria, Developmental cataract, Telangiectasi... |
ORPHA:93400 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Developmental glaucoma, Generalized hypertrichosis, Megalocornea, Downslanted pa... |
ORPHA:2409 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Retinal pigment epithelial mottling, Unsteady gait, Knee flexion contracture, Calf mu... |
OMIM:618733 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Kyphoscoliosis, Hemivertebrae, Nail p... |
OMIM:308300 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Hemivertebrae, Growth delay, Scoliosis, Intrauterine growth retardation... |
ORPHA:85284 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Ataxia, Downslant... |
OMIM:601853 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Synophrys, Abnormal curvature of the vertebral column, Abnormality of skin pigmentatio... |
OMIM:619475 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Short stature, Bilateral ptosis, Abnormality of skin pigmentation, Na... |
OMIM:620040 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ... |
ORPHA:626 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Sparse hair, Spar... |
ORPHA:1810 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse eyebrow, Cryptorchid... |
OMIM:612530 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Telangiectasia of the skin, Ataxia, Premature graying of hair, Gait dis... |
ORPHA:100 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Rapp-Hodgkin Syndrome |
|
Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short... |
OMIM:129400 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Testicular mass, Loss of eyelashes, Paralytic ... |
ORPHA:548 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Ptosis, Facial palsy, Hand muscle weakn... |
ORPHA:98915 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Congenital diaphragmatic hernia |
OMIM:615524 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Short neck, Spinal canal stenosis, Abnormality of skin pigmenta... |
ORPHA:93473 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral end... |
ORPHA:239 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,... |
ORPHA:69735 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Cataract, Ataxia, Short neck, Conjugated hyperbilirubinemia, Zonular cataract |
ORPHA:168577 |
Myotonic Dystrophy 2 |
|
Frontal balding, Generalized amyotrophy, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Intrauterine growt... |
ORPHA:228390 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Brushfield spots, Upslanted palpebral fissure, Posterior e... |
ORPHA:912 |
Mogs-Cdg |
|
Alopecia, Thoracic scoliosis, Hydrocele testis, Long eyelashes, Left ventricular hypertrophy, Fai... |
ORPHA:79330 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Short neck, Sparse eyebrow, Upslant... |
OMIM:613610 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Gapo Syndrome |
|
Alopecia, Epicanthus, Sparse eyelashes, Facial palsy, Sparse eyebrow, Growth delay, Hypoplastic n... |
OMIM:230740 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Short stature, Conjunctivitis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Flexion contracture, Elbow... |
OMIM:248370 |
Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Seckel Syndrome 9 |
|
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Intrauterine growth re... |
OMIM:616777 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali... |
ORPHA:79432 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Small nail, Intrauteri... |
ORPHA:166035 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Palpebral edema, Absen... |
OMIM:137940 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Hypopigmentation of hair, Abnormality of hair texture, Ky... |
ORPHA:96169 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Nail dystrophy, Hypocholesterolemia, Ectropion |
ORPHA:31150 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Bilater... |
ORPHA:544488 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... |
OMIM:313400 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, P... |
ORPHA:85167 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepharon, Pteryg... |
OMIM:263650 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Opacification of the corneal stroma |
ORPHA:1643 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance |
OMIM:600142 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Hypocalcemi... |
ORPHA:163979 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad-based gait, Corneal opacity, Corneal dystrophy, Short neck, Sparse eyebrow, Synophrys, Low ... |
ORPHA:495875 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Upslanted palpebral fissure, Grow... |
ORPHA:250999 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Scoliosis,... |
OMIM:613150 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to walk, Flexion co... |
ORPHA:258 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Ky... |
OMIM:617602 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Lumbar hyperlordosis, Transient ischemic attack, Hypermelanotic macule, Ovoid vert... |
OMIM:242900 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan... |
ORPHA:2309 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Sparse hair, Megalocornea, Hypopigmentation of... |
OMIM:252500 |
Neutral Lipid Storage Myopathy |
|
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl... |
ORPHA:98908 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Ataxia, Short stature, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premat... |
OMIM:613990 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Small for gestational ... |
OMIM:268400 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... |
OMIM:603553 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Entropion, Ataxia, Hypermelanotic macule, Short stature, C... |
ORPHA:910 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Short neck, Pigmentary retinopathy, Downslanted palpebral fis... |
OMIM:614230 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Short stature, Sparse eyebrow, Early balding, Hypopi... |
ORPHA:2067 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Upslanted palpebral fissure, Pigmentary ... |
OMIM:214110 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Synophrys, Blue irides, Premature ... |
OMIM:193500 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... |
OMIM:617156 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Hyperpigmentation of the skin |
OMIM:175500 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Short stature, Abnormal form of the vertebral bodies, Gait disturb... |
ORPHA:93160 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse e... |
ORPHA:1001 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Sparse eyelashes, Alopecia totalis, Small for gestational age, Short stature, Sparse ... |
ORPHA:2909 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Delayed puberty, Upper eyelid edema, Campto... |
ORPHA:168569 |
De Barsy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Kyphoscoliosis, Athetosis, Progressive cerebellar ataxia, ... |
ORPHA:2962 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hyperammonemia, Hyperproli... |
ORPHA:3008 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Telecanthus, Split nail, Short stature, Congenital diaphragmatic hernia,... |
OMIM:304110 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Spinal canal stenosis, Astigmatism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyper... |
OMIM:251880 |
Satoyoshi Syndrome |
|
Short stature, Hyperlordosis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of... |
ORPHA:3130 |
Acrocallosal Syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:36 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Congestive heart failure, Hypertrophic cardi... |
ORPHA:70472 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Flexion contracture, Hypopigmented skin... |
ORPHA:90289 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal ero... |
ORPHA:920 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal... |
OMIM:613001 |
Fumarase Deficiency |
|
Conjunctival icterus, Hyperbilirubinemia |
OMIM:606812 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Epistaxis |
OMIM:211600 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
Snakebite Envenomation |
|
Hypopituitarism, Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Pineal cyst, Hypopigm... |
ORPHA:363958 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive |
OMIM:605676 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... |
OMIM:619036 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Short neck, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Thick hair, Ataxia, Synophrys, Atrioventricular block, Abnormal form o... |
ORPHA:581 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal verteb... |
ORPHA:2273 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Ataxia, Short stature, Congenital diaphragmatic hernia, Absent puber... |
OMIM:615919 |
Ogden Syndrome |
|
Epicanthus, Premature atrial contractions, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ... |
OMIM:300855 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... |
ORPHA:1775 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Epicanthus, Absent nipple, Thoracic scoliosis, Sparse eyebrow, Lacrimal duct aplasia, Pulmonary a... |
OMIM:620186 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Alopecia, Short stature,... |
ORPHA:79474 |
Focal Dermal Hypoplasia |
|
Alopecia, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Abnormality ... |
ORPHA:2092 |
Melas |
|
Hypoparathyroidism, Ataxia, Short stature, Ragged-red muscle fibers, Myopathy, Pigmentary retinop... |
ORPHA:550 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot, Short palpe... |
ORPHA:364577 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Long eyelashes, Intraute... |
OMIM:618651 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Limb muscle weakness, Ataxia |
ORPHA:79241 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Hypoalbum... |
OMIM:277900 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Hyperpigmentation of the skin, Short sta... |
ORPHA:221008 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Abnormal circulating alpha-fetoprotein conce... |
ORPHA:53035 |
Schisis Association |
|
Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:63862 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Kyphoscoliosis, G... |
OMIM:259600 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Short neck, Abnormal pu... |
ORPHA:233 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar... |
OMIM:613451 |
White-Sutton Syndrome |
|
Waddling gait, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Obesity, Upslant... |
OMIM:616364 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... |
ORPHA:141099 |
Caroli Syndrome |
|
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Melena, Hy... |
ORPHA:480520 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retarda... |
ORPHA:2075 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification o... |
OMIM:252600 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides, Spinal canal stenosis |
OMIM:614613 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Fucosidosis |
|
Kyphosis, Corneal opacity, Abnormality of the nail, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Larsen Syndrome |
|
Vertebral fusion, Corneal opacity, Cervical kyphosis, Short nail, Spondylolysis, Scoliosis, Shall... |
OMIM:150250 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Scoliosis, Anterior be... |
ORPHA:584 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hypertrophic cardiomyopathy, Reduced haptoglobin level, Hyperbil... |
OMIM:613673 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Dysmetria, Athetosis, Scol... |
OMIM:615273 |
Cooper-Jabs Syndrome |
|
Short stature, Scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Tricuspid regurgit... |
OMIM:253200 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Ataxia, Hyperbilirubinemia |
ORPHA:822 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers, Ptosis |
OMIM:614924 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Juvenile Dermatomyositis |
|
Calcinosis, Alopecia, Myositis, Palpebral edema, Weight loss |
ORPHA:93672 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Ataxia |
ORPHA:309288 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Loss of ambulation, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle,... |
OMIM:607426 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Melanocytic nevus, Growth delay, Vertebral segmentation defect, Adenoma se... |
ORPHA:2612 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Vitiligo, Spider hemangioma, Increased total bilirubin |
ORPHA:2137 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis... |
ORPHA:2311 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Spina bifida occulta, Nasolacrimal duct obstruction, Developmental catara... |
OMIM:612109 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarrin... |
OMIM:256800 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Short stature, Abnormal hair pattern, Intrauterine growth reta... |
ORPHA:2315 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Scoliosis |
OMIM:135100 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Short stature, Flexion contracture, Abdominal obesity, Hypoplasia... |
OMIM:619321 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Lacrimal duct atre... |
OMIM:300952 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:411511 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Absent eyebrow, Alopecia, ... |
OMIM:264090 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... |
ORPHA:3202 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Joint contracture of the hand, Foot joint contracture, Hypopigm... |
ORPHA:220402 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ptosis, Ataxia, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle w... |
ORPHA:254892 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Breast aplasia, Multiple cafe-au-lait spots, Blepharitis, Ptosis |
ORPHA:570 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Sacral dimple, Tachycardia, Abnormal eyela... |
OMIM:619488 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism |
OMIM:615830 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Hyperbilirubinemia |
OMIM:613812 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build, Ptosis |
OMIM:603041 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Alopecia totalis, Hyperpigmentation of the skin, Short sta... |
ORPHA:221016 |
Mixed Connective Tissue Disease |
|
Keratoconjunctivitis sicca, Alopecia, Myositis |
ORPHA:809 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Epicanthus, Onychogryposis of fingernail, Camptodactyly of finger, Curly eyelashes, Sho... |
ORPHA:3107 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Hyperbilirubinemia |
ORPHA:400 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss,... |
ORPHA:251071 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Sparse scalp hair, Abnormal vertebral morphology, Corneal opacity, C... |
ORPHA:536471 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Congestive heart failure, Low anterior hairline, Spinal canal stenosis, Abnormal... |
ORPHA:579 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Scoliosis |
ORPHA:95232 |
Tyrosinemia Type 2 |
|
Corneal opacity, Abnormality of the nail, Ataxia |
ORPHA:28378 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Emanuel Syndrome |
|
Torticollis, Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Upslanted palpebral fissu... |
OMIM:609029 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Growth delay, Secondary hyperparathyroidism, Difficulty walking, Failure to thrive, A... |
OMIM:277440 |
Mosaic Trisomy 9 |
|
Corneal opacity, Short neck, Hemivertebrae, Upslanted palpebral fissure, Small nail, Scoliosis |
ORPHA:99776 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Diffic... |
ORPHA:99845 |
Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Alstrom Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Kyphosis, Multino... |
OMIM:203800 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Supernumerary nipple, Short neck, Hyperpigmented streaks, ... |
OMIM:600268 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Hemochromatosis, Type 1 |
|
Alopecia, Testicular atrophy, Hyperpigmentation of the skin |
OMIM:235200 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy, Thick hair, Short stature, Abn... |
ORPHA:193 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Non-Syndromic Posterior Hypospadias |
|
Cryptorchidism, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:95706 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Scoliosis, Failure to thrive, Abnormal... |
ORPHA:261197 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Scoliosis, Hypopigmentation o... |
ORPHA:98794 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Keratoconjunctivitis, Pigmentary retinopathy, Nail dystrophy, Chole... |
OMIM:240300 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes |
OMIM:610768 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Myositis |
ORPHA:93552 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia |
OMIM:225050 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Sparse eyebrow, Postnatal growth retardation, Hemiv... |
OMIM:302960 |
Graft Versus Host Disease |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:39812 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Corneal opacity, Aortic regurgitation, Developmental cataract |
OMIM:616603 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Epicanthus, Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:618541 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... |
ORPHA:2396 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Abnormal vertebral morphology, Sacral dimple, Ataxia, Sclerocornea, Highly arched eye... |
ORPHA:280 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Pulmonary embolism |
OMIM:185000 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Vertebral ... |
ORPHA:1834 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Ataxia, Short stature, Postnatal growth retardation, Weight loss, Delayed puberty, Fail... |
OMIM:212750 |
Mosaic Trisomy 8 |
|
Corneal opacity, Short neck, Hypopigmented skin patches, Vertebral segmentation defect, Scoliosis... |
ORPHA:96061 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Corneal opacity, Ataxia |
OMIM:272200 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Giant Cell Arteritis |
|
Alopecia, Ataxia, Hyperhidrosis, Weight loss, Ptosis |
ORPHA:397 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Cryptorchidism, Melanocytic nevus, Hyperhidrosis, Patchy alopecia, Pheochromocy... |
ORPHA:2874 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Epicanthus, Camptodactyly of finger, Cryptorchidism, Kyphosis, Upslanted palpebral fiss... |
ORPHA:1507 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow |
OMIM:261990 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Ataxia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corne... |
OMIM:251300 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair |
ORPHA:659 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, Nail dysplasia, Iris coloboma |
ORPHA:139471 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... |
ORPHA:186 |
Keutel Syndrome |
|
Alopecia, Short stature |
ORPHA:85202 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Ptosis |
ORPHA:53271 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Corneal stromal edema, Scoliosis, Shallow orbits, Sparse hair |
OMIM:601812 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia |
OMIM:616576 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Short neck, Sparse eyebrow, Fine hair, Cleft vertebral arch,... |
OMIM:210710 |
Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Facial palsy, Congenital diaphragmatic hernia, Curly eyelashes, Unsteady gait, Low... |
OMIM:301022 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Opacification of the corneal stroma |
OMIM:601356 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Hyp... |
ORPHA:2020 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Hyperhidrosis, Increased ... |
ORPHA:79102 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Short stature, Flexion contracture, Mild intrauterine growth retardation, Small nail, S... |
OMIM:308050 |
Vici Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Elevated circulating creatine kinase concentratio... |
OMIM:242840 |
Kabuki Syndrome |
|
Ptosis, Short stature, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, Ve... |
ORPHA:2322 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Alopecia, Decreased response to growth hormone stimulation test, Weaknes... |
ORPHA:273 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... |
OMIM:169550 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl... |
ORPHA:974 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Ataxia, Highly arched eyebrow, Short neck, Platy... |
ORPHA:309282 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Unilateral ptosis, Congenital diaphragmatic hernia |
OMIM:619699 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Short stature, Reticulated skin pigm... |
OMIM:305000 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, ... |
ORPHA:1272 |
Immunodeficiency 7 |
|
Failure to thrive, Patchy alopecia, Vitiligo |
OMIM:615387 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hemivertebrae, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Sacral dimple, Tricuspid regurgitation, Corneal opacity, Abn... |
ORPHA:2556 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Decreased muscle mass, Thoracic scoliosis, Elbow flexion contracture, Im... |
ORPHA:1900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Bile duct proliferation, Sparse hair |
OMIM:607626 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Nail pits, Reticular hyperpigmentation, Premature graying of hair,... |
OMIM:127550 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Failure to thrive |
OMIM:613845 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Intrauterine... |
ORPHA:2470 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... |
ORPHA:79430 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Failure to thrive, Hypertrichosis |
OMIM:612379 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Yellow Fever |
|
Shock, Low back pain, Elevated circulating creatine kinase concentration, Supraventricular arrhyt... |
ORPHA:99829 |
Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Flexion contracture, Spotty hypopigmentation, Hypohidrosis, Ir... |
ORPHA:90291 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis |
ORPHA:3474 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Ataxia, Hypopigmented skin pa... |
ORPHA:163746 |
Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Sacral dimple, Short neck, Microcornea, Opacification of the corneal str... |
OMIM:201000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Increased endomysial connective tissue, Flexion contracture, Muscular dys... |
OMIM:613154 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Wilson Disease |
|
Back pain, Kayser-Fleischer ring, Difficulty walking |
ORPHA:905 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Short palpebral fissure |
OMIM:617763 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardat... |
ORPHA:958 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Growth delay, Nail dystrop... |
ORPHA:79411 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Epicanthus, Short stature, Bilateral ptosis, Type 2 muscle fiber predomi... |
OMIM:619743 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive |
ORPHA:169154 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Kyphosis, Abnormal pup... |
ORPHA:534 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy |
ORPHA:37042 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Iris atrophy, Highly arched eyebrow |
OMIM:620305 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers, Upslanted palpebral fissure, Growth de... |
OMIM:252010 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Brushfield spots, Unsteady gait, Upslanted palpebral fissure, Pigmentary re... |
OMIM:214100 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Brad... |
ORPHA:90674 |
Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplastic toenails, Cryptorchidism, D... |
ORPHA:261344 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Epicanthus, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
Serkal Syndrome |
|
Growth delay, Congenital diaphragmatic hernia |
ORPHA:139466 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Failure to thrive, Ptosis |
OMIM:124000 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia |
OMIM:618282 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Failure to thrive |
OMIM:304790 |
Pearson Marrow-Pancreas Syndrome |
|
Punctate keratitis, Hyperbilirubinemia |
OMIM:557000 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Chromosome 15Q25 Deletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Growth delay, Intraute... |
OMIM:614294 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Upslanted palpebral fissure, Long palpebral fissu... |
ORPHA:1780 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Adrenomyeloneuropathy |
|
Frontal balding, Spastic gait, Adrenocorticotropic hormone excess, Fine hair, Abnormality of skin... |
ORPHA:139399 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Dystrophic fingernails, Absent ey... |
ORPHA:740 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Conjunctival icterus, Hypertensi... |
ORPHA:447 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Xanthelasma |
ORPHA:30391 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Thoracolumbar scoliosis, Portal hypertension, Hematemesis, Pigmentary ret... |
OMIM:301068 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Alopecia totalis, Decreased response to growth hormone stimulation test, Abnormal size ... |
ORPHA:293978 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Cataract, Microcornea, Opacification of the corne... |
ORPHA:46059 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Absent nipple, Congenital diaphragmatic hernia, Kyphoscoliosis, Elbow flexion contrac... |
OMIM:200980 |
Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Alopecia |
OMIM:176670 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Corneal opacity, Kyphosis, Astigmatism, Gait disturbance, Scoliosis, Aortic... |
ORPHA:464306 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Sparse anterior scalp hair, Cryptorchidism, Unste... |
ORPHA:96121 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Hypoplastic toenails, ... |
ORPHA:904 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Short stature, Camptodactyly of finger, Upslanted palpebral fissur... |
ORPHA:2135 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Mu... |
ORPHA:1052 |
Monosomy 9P |
|
Epicanthus, Thin nail, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorchidism, Sy... |
ORPHA:261112 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Highly arched e... |
OMIM:618454 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Short neck, Abnormal eyelash morpho... |
ORPHA:818 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
Idiopathic Camptocormia |
|
Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proximal spinal ... |
ORPHA:1320 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Corneal opacity, Kyphosis, Astigmatism, Gait disturbance, Scoliosis, Aortic... |
ORPHA:464311 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot, Short palpe... |
OMIM:608670 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... |
OMIM:613471 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia |
ORPHA:1120 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Short stature, Posterior wedging of vertebral bodies, Abnormality of skin pigmentat... |
ORPHA:50814 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Epicanthus, Kyphoscoliosis, Myopathy, Type 1 muscle fiber... |
OMIM:614557 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Ragged-red muscle fibers, Gait ataxia, Pigmentary retinopathy, Failure to thrive |
ORPHA:255210 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture... |
ORPHA:2108 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Short stature, Hirsutism, Testicular adrenal rest tumor, Polycystic ovaries, Hyperpigme... |
ORPHA:90795 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albi... |
OMIM:214500 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension, Epicanthus, Neonatal hyperbilirubinemia, Thick eyebrow |
OMIM:300896 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Thoracic scoliosis, Kyphoscoliosis, Cryptorchidism, Bilateral ptosis, Kyphosis, Keratoc... |
ORPHA:536532 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Ataxia |
OMIM:253260 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Low anterio... |
OMIM:301044 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Alopecia totalis, Intrauterine growth retardation |
OMIM:618775 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Opacification of the corneal stroma, Short neck |
ORPHA:583 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Cataract, Corneal opacity, Entropion, Hypertriglyceridemia, Lagophthalmos, Irr... |
ORPHA:3455 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Epicanthus, Short stature, Camptodactyly of finger, Congenit... |
ORPHA:3380 |
Cockayne Syndrome A |
|
Hip contracture, Dry hair, Anhidrosis, Ataxia, Short stature, Cryptorchidism, Retinal pigment epi... |
OMIM:216400 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Short stature, Onycholysis, Scoliosis, Decreased body weight, Muscle fiber atrophy... |
OMIM:182250 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Hypoplasia of the thymus |
OMIM:603554 |
Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Camptodactyly of 2n... |
OMIM:601803 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Kyphosis, Upslanted palpebral fissure,... |
OMIM:176270 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Broad-based gait, Corneal opacity, Limb ataxia, Scoliosis, Thor... |
ORPHA:2072 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis |
OMIM:609638 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased bo... |
ORPHA:2298 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Failure to thrive in infancy, Alopecia universalis |
OMIM:606367 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Abnormal fingernail morph... |
ORPHA:235 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac... |
ORPHA:567983 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Abnormal fingernail morphology, Short st... |
ORPHA:881 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma |
OMIM:243605 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair |
OMIM:619869 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Hypoplastic thumbnail, Congenital bilateral ptosis, Small nail, Opacification... |
ORPHA:1692 |
Holoprosencephaly |
|
Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Congenital diaphragmatic hernia,... |
ORPHA:2162 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Fryns Syndrome |
|
Corneal opacity, Short neck, Hypoplastic fingernail |
ORPHA:2059 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opa... |
ORPHA:2907 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Highly arched eyebrow, Curly eyelashes, Congenital diaphragmatic hernia, Cryptorch... |
OMIM:122470 |
Arterial Tortuosity Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Scoliosis, Blepharophimosis, Downslanted pa... |
OMIM:208050 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... |
ORPHA:42775 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Epicanthus, Telecanthus, Short stature, Pancreatic cysts, Ovarian cyst, Spars... |
OMIM:311200 |
Immunodeficiency, Common Variable, 10 |
|
Alopecia totalis, Trachyonychia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Congenital diaphragmatic hernia, Large for gestational age, Hydrocele testis, Choreoa... |
OMIM:614080 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Epicanthus, Telecanthus, Ataxia, Pancreatic cysts, Coarse hair, Sparse ha... |
ORPHA:2750 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Sparse scalp hair, Increased VLDL cholesterol concentration, Portal hype... |
OMIM:243800 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Abnormal toenail morphology, E... |
ORPHA:2908 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Chronic Graft Versus Host Disease |
|
Alopecia, Flexion contracture, Weight loss, Abnormality of skin pigmentation, Keratoconjunctiviti... |
ORPHA:99921 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Corneal opacity, Congestive heart failure, Abnormal curvature of the verteb... |
ORPHA:90348 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Bifid thoracic vertebrae, Eyelid coloboma, Congenital diaphragmatic hernia |
ORPHA:268249 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral... |
OMIM:219000 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Blotching pigmentation of the skin, Opacification of the corn... |
OMIM:601559 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Hypoalbuminemia, Hypocalcemia, Scoliosis, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Short neck, Almond-shaped palpebral fissure, Upslanted palpebral fissur... |
ORPHA:177907 |
Distal Deletion 15Q |
|
Small for gestational age, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar... |
ORPHA:1596 |
Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Proteus Syndrome |
|
Decreased muscle mass, Central heterochromia, Abnormal form of the vertebral bodies, Abnormality ... |
ORPHA:744 |
Senior-Boichis Syndrome |
|
Hypertension, Portal hypertension, Increased total bilirubin |
ORPHA:84081 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Ptosis, Short stature, Congenital diaphragmatic hernia, Postnatal gr... |
OMIM:135900 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Corneal opacity, Cervical kyphosis, Cerebral hemorrhage, Ataxia, Kyphosis, ... |
ORPHA:666 |
Sarcoidosis |
|
Alopecia, Hyperpigmentation of the skin, Facial palsy, Dacryocystitis, Enlarged lacrimal glands, ... |
ORPHA:797 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Short stature, Sparse axillary hair, Blepharophimosis, ... |
OMIM:181270 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Dry hair, Hypopigmentation of hair, Widow's peak, Upslanted palpebral fissure, Coars... |
ORPHA:1974 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Telecanthus, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Wi... |
ORPHA:2745 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Hypohidrosis, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, ... |
ORPHA:158668 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Pulmonary insufficiency |
OMIM:208500 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Diastasis recti, Supernumerar... |
OMIM:305600 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski... |
ORPHA:98754 |
Van Den Ende-Gupta Syndrome |
|
Blepharophimosis, Abnormal eyebrow morphology, Sacral dimple, Sclerocornea |
OMIM:600920 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Blepharophi... |
OMIM:601186 |
Carney Complex, Type 1 |
|
Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... |
OMIM:160980 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop... |
ORPHA:3322 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski... |
ORPHA:98793 |
Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Severe short stature, Small for gestational age, Ataxia, Abnormal hair morp... |
OMIM:133540 |
C Syndrome |
|
Epicanthus, Failure to thrive in infancy, Short stature, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:1308 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Cataract, Sclerocornea, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski... |
ORPHA:177904 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Cataract, Corneal opacity, Ptosis |
OMIM:274000 |
Gaucher Disease |
|
Ataxia, Corneal opacity, Elevated circulating C-reactive protein concentration, Abnormality of sk... |
ORPHA:355 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Scoliosis, Hypopigmentation of the ski... |
ORPHA:177901 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
Peters Plus Syndrome |
|
Sacral dimple, Cataract, Corneal opacity, Short neck, Microcornea, Upslanted palpebral fissure, P... |
ORPHA:709 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis |
ORPHA:398079 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia, Intrauterine growth retardation |
OMIM:611812 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Scoliosis, Congenital diaphragmatic hernia |
ORPHA:1335 |
3Q29 Microdeletion Syndrome |
|
Abnormality of skin pigmentation, Gait disturbance, Six lumbar vertebrae, Failure to thrive, Down... |
ORPHA:65286 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Short stature, Congenital diaphragmatic hernia, Lower eyelid coloboma, Ab... |
OMIM:154400 |
Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
Cornelia De Lange Syndrome |
|
Short stature, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:199 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Keratoconjunctivitis sicc... |
ORPHA:227982 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Corneal opacity, Spinal canal stenosis, Heart murmur, Cardio... |
ORPHA:217085 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Epicanthus, Camptodactyly of finger, Congenital diaphragmatic hernia, Supernume... |
ORPHA:373 |
Poland Syndrome |
|
Congenital diaphragmatic hernia, Retinal hamartoma, Cryptorchidism, Kyphosis, Aplasia of the pect... |
ORPHA:2911 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2260 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Alopecia, Anterior pituitary dysgenesis, Vitiligo |
ORPHA:227990 |
Bloom Syndrome |
|
Small for gestational age, Sparse eyelashes, Paronychia, Growth delay, Severe postnatal growth re... |
ORPHA:125 |
Ring Chromosome 13 Syndrome |
|
Epicanthus, Alopecia, Hypoplasia of the gallbladder, Abnormality of skin pigmentation, Growth del... |
ORPHA:96176 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Corneal opacity, Spinal canal stenosis, Heart murmur, Cardio... |
ORPHA:217093 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Kyphosis, Scoliosis, Hypopigmentation ... |
ORPHA:398069 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Abnormally ossified vertebrae, Severe short stature, Cryptorchidism, Loss of eyelashes,... |
ORPHA:2636 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... |
OMIM:309801 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Short stature, Congenital diaphragmatic hernia, Upslanted palpebral fiss... |
OMIM:157800 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Epicanthus, Ovarian gonadoblastoma, Congenital diaphragmatic... |
OMIM:194080 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Ptosis, Ectropion, Short stature, Kyphosis, Macroglossia, Scoliosis,... |
OMIM:619472 |
Alkaptonuria |
|
Abnormality of skin pigmentation, Abnormality of the nail, Thickened Achilles tendon, Irregular h... |
ORPHA:56 |
Perlman Syndrome |
|
Cryptorchidism, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, La... |
OMIM:267000 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Un... |
ORPHA:84064 |
Fryns Syndrome |
|
Short neck, Narrow palpebral fissure, Stillbirth, Small nail, Opacification of the corneal stroma... |
OMIM:229850 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Short neck, Eyelid coloboma, Stillbirth, Opacification of the corneal ... |
OMIM:268300 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Hypertension, Scoliosis, Hypopigmentat... |
ORPHA:739 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Abnormal cornea morph... |
ORPHA:411629 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Short stature, Abnormality of hair ... |
ORPHA:286 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Hypomagnesemia, Retinal pigment epithelial mottling, Redu... |
OMIM:219800 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Weight loss, Blepharospasm, Myopathy, Distal amyotrophy, Falls, Muscle f... |
ORPHA:2388 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Keratoconjunctivitis |
OMIM:269200 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Irregularity of vertebral bodies, Corneal opacity, Hypertens... |
ORPHA:580 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Palpebral edema, Ataxia, Weight loss, Enlargement of parotid gland |
ORPHA:50918 |
Limb Body Wall Complex |
|
Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc... |
ORPHA:2369 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia |
OMIM:219100 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Choreoathetosis, G... |
ORPHA:3464 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Unilateral cryptorchidism, Decreased response to growt... |
OMIM:613406 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypophosp... |
ORPHA:411634 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Short stature, Highly arched eyebrow, Bilateral ptosis, Low anteri... |
ORPHA:1449 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Choreoathetosis, Sparse hair, Decreased testicular size |
OMIM:241080 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Renovascular hyperte... |
ORPHA:3472 |
Digeorge Syndrome |
|
Pilonidal sinus, Sclerocornea, Hypocalcemia, Scoliosis, Blepharophimosis, Posterior embryotoxon, ... |
OMIM:188400 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Growth delay, Anonychia, Nail dystrophy, Failure to thrive, Abnormality of ... |
ORPHA:79404 |
Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Poliosis |
ORPHA:79098 |
Iniencephaly |
|
Rhizomelia, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis multi... |
ORPHA:63259 |
Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
African Trypanosomiasis |
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Alopecia, Akinesia, Weight loss, Abnormal prolactin level, Choreoathetosis, Conjunctivitis, Gait ... |
ORPHA:3385 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
Thoracoabdominal Syndrome |
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Congenital diaphragmatic hernia |
OMIM:313850 |
Diets-Jongmans Syndrome |
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Cryptorchidism, Short stature, Congenital diaphragmatic hernia |
OMIM:618846 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Failure to thrive, Small for gestational age, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... |
ORPHA:2255 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pancreati... |
OMIM:600001 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Epicanthus, Cataract, Sparse eyelashes, Absent nipple, Sclerocornea, Anterior ... |
OMIM:216340 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Epicanthus, Facial hypotonia, Short nail, Supernumerary nipple, Congenital diaphragmatic hernia, ... |
OMIM:312870 |
Relapsing Polychondritis |
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Alopecia, Conjunctivitis |
ORPHA:728 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Narrow palpebral fissure, Downslanted palpebral fissures, Congenital diaphragmatic hernia |
OMIM:614437 |
Pagod Syndrome |
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Abnormal testis morphology, Short stature, Congenital diaphragmatic hernia |
ORPHA:991 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Meckel Syndrome |
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Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Adams-Oliver Syndrome 1 |
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Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Menkes Disease |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool... |
ORPHA:565 |
Systemic Lupus Erythematosus |
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Alopecia |
ORPHA:536 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Hydrolethalus Syndrome 1 |
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Intrauterine growth retardation, Agenesis of the diaphragm, Adrenal gland dysgenesis |
OMIM:236680 |
Microphthalmia, Syndromic 6 |
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Microcornea, Orbital cyst, Sclerocornea |
OMIM:607932 |
Behcet Syndrome |
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Patchy alopecia |
OMIM:109650 |