-
| Heparan sulfate excretion in urine
-
| Impaired thermal sensitivity
-
| Priapism
-
| Increased endomysial connective tissue
-
| Muscle fiber atrophy
-
| Muscle fiber hypertrophy
-
| Amyotrophy
-
| Negative nitroblue tetrazolium (NBT) reduction test
-
| Ragged-red muscle fibers
-
| Rhabdomyolysis
-
| Decreased activity of NADPH oxidase
-
| Arterial calcification
-
| Intracellular accumulation of autofluorescent lipopigment storage material
-
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
-
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
-
| Decreased pyruvate carboxylase activity
-
| Increased intramyocellular lipid droplets
-
| Levator palpebrae superioris atrophy
-
| Superior rectus atrophy
-
| Abnormal genital system morphology
-
| Abnormal sex determination
-
| Sex reversal
-
| Oculomotor nerve palsy
-
| Specific anosmia
-
| Prolonged PR interval
-
| Abnormal ST segment
-
| Morphological abnormality of the gastrointestinal tract
-
| Functional abnormality of the gastrointestinal tract
-
| Curved distal phalanx of the 3rd toe
-
| Abnormal sperm morphology
-
| Sperm head anomaly
-
| Sperm neck anomaly
-
| Abnormality of urine hormone level
-
| Medially sloping radial epiphyses
-
| Sloping radial epiphyses
-
| Abnormal germ cell morphology
-
| Decreased number of sweat glands
-
| Large radial epiphyses
-
| Irregular radial epiphyses
-
| Sclerotic radial epiphyses
-
| Round radial epiphyses
-
| Medially deficient radial epiphyses
-
| Chevron-shaped/cone-shaped radial epiphyses
-
| Medially flattened radial epiphyses
-
| Flattened radial epiphyses
-
| Progressive hyperpigmentation
-
| Abnormality of coordination
-
| Abnormality of central motor function
-
| Abnormality of the medulla oblongata
-
| Female external genitalia in individual with 46,XY karyotype
-
| Hyposegmentation of neutrophil nuclei
-
| Abnormality of higher mental function
-
| Duplication of the middle phalanx of the 5th finger
-
| Duplication of the distal phalanx of the 5th finger
-
| Partial duplication of the phalanges of the 5th finger
-
| Complete duplication of the phalanges of the 5th finger
-
| Duplication of phalanx of 5th finger
-
| Congenital absence of skin of limbs
-
| Partial duplication of the proximal phalanx of the 4th finger
-
| Partial duplication of the middle phalanx of the 4th finger
-
| Partial duplication of the distal phalanx of the 4th finger
-
| Complete duplication of the proximal phalanx of the 4th finger
-
| Patchy hypo- and hyperpigmentation
-
| Punctate palmar and solar hyperkeratosis
-
| Generalized cerebral atrophy/hypoplasia
-
| Contracture of the distal interphalangeal joint of the 3rd finger
-
| Abnormality of hair texture
-
| 2-4 toe syndactyly
-
| 2-5 toe syndactyly
-
| 3-5 toe syndactyly
-
| Osseous syndactyly of toes
-
| 3-5 finger syndactyly
-
| 1-2 toe syndactyly
-
| 1-4 toe syndactyly
-
| 1-5 toe syndactyly
-
| Abnormality of body height
-
| Absent fifth fingernail
-
| Bracket epiphysis of the distal phalanx of the 5th finger
-
| Contracture of the metacarpophalangeal joint of the 5th finger
-
| Rounded epiphyses
-
| Contracture of the distal interphalangeal joint of the 5th finger
-
| Joint contracture of the 5th finger
-
| Triangular shaped middle phalanx of the 5th finger
-
| Ulnar deviation of the 5th finger
-
| Radial deviation of the 3rd finger
-
| Fragmentation of the metacarpal epiphyses
-
| Pseudoepiphysis of the distal phalanx of the 5th finger
-
| Hydrops fetalis
-
| Premature rupture of membranes
-
| Ulnar deviation of the 3rd finger
-
| Abnormality of toe
-
| Broad metatarsal
-
| Bulbous tips of toes
-
| Ankle swelling
-
| Abnormal delivery
-
| Narrow foot
-
| Radial deviation of finger
-
| Radial deviation of the 2nd finger
-
| Anterior hypopituitarism
-
| Insulin-resistant diabetes mellitus
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