phenofolder

| Increased carrying angle
| Cystic medial necrosis
| Osteolytic defects of the distal phalanx of the 2nd toe
| Curved distal phalanx of the 2nd toe
| Bullet-shaped distal phalanx of the 2nd toe
| Broad distal phalanx of the 2nd toe
| Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
| Duplication of the middle phalanx of the 2nd toe
| Triangular shaped middle phalanx of the 2nd toe
| Symphalangism affecting the middle phalanx of the 2nd toe
| Protuberances at ends of long bones
| Symphalangism affecting the distal phalanx of the 2nd toe
| Patchy sclerosis of the distal phalanx of the 2nd toe
| Aplasia/Hypoplasia of the patella
| Abnormality of femoral epiphyses
| Increased laxity of fingers
| Abnormality of lower-limb metaphyses
| Abnormal finger flexion creases
| Aplasia/Hypoplasia of the fibula
| Aplasia/hypoplasia involving bones of the lower limbs
| Aplasia/Hypoplasia involving bones of the feet
| Aplasia/Hypoplasia of the ulna
| Aplasia/hypoplasia involving bones of the upper limbs
| Central Y-shaped metacarpal
| Wolff-Parkinson-White syndrome
| Capitate-hamate fusion
| Ventricular hypertrophy
| Left ventricular hypertrophy
| Abnormality of cardiac ventricle
| Conotruncal defect
| Abnormality of the left ventricle
| Short tubular bones (hand)
| Intellectual disability
| Mitral stenosis
| Double outlet right ventricle
| Clavicular sclerosis
| Abnormal mitochondria in muscle tissue
| Abnormality of the cerebral vasculature
| Cellulitis
| Celosomia
| Spinal cord posterior columns myelin loss
| Retrobulbar optic neuritis
| Optic neuritis
| Vestibular nystagmus
| Vaginal neoplasm
| Abnormality of the os naviculare pedis
| Reduced muscle collagen VI
| Reduced muscle fiber laminin beta 1
| Absent muscle dystrophin expression
| Abnormal muscle fiber dystrophin expression
| Absent muscle fiber merosin
| Abnormal muscle fiber merosin expression
| Abnormal muscle fiber laminin beta 1
| Reduced muscle fiber merosin
| Small earlobe
| Reduced muscle fiber alpha dystroglycan
| Reduced muscle dystrophin expression
| Platyspondyly
| Otitis media
| Clinodactyly of the 5th toe
| Chronic otitis media
| Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
| Toe clinodactyly
| Symphalangism affecting the proximal phalanx of the 3rd toe
| Posterior rib cupping
| Symphalangism affecting the middle phalanx of the 4th toe
| Symphalangism affecting the middle phalanx of the 3rd toe
| Autoamputation (feet)
| Deep plantar creases
| Symphalangism affecting the proximal phalanx of the 5th toe
| Beaded ribs
| Aplasia of the proximal phalanx of the 4th toe
| Absent proximal phalanx of the 3rd toe
| Aplasia of the middle phalanges of the toes
| Aplasia of the proximal phalanx of the 5th toe
| Absent middle phalanx of the 3rd toe
| Aplasia of the distal phalanx of the 5th toe
| Aplasia of the middle phalanx of the 5th toe
| Aplasia of the middle phalanx of the 4th toe
| Missing ribs
| Short distal phalanx of the 3rd toe
| Aplasia of the proximal phalanges of the toes
| T-cell acute lymphoblastic leukemias
| Pancreatic adenocarcinoma
| Small intestine carcinoid
| Intestinal carcinoid
| Tetraplegia
| Acute lymphatic leukemia
| Progressive encephalopathy
| Retroperitoneal chemodectomas
| Muscle fibrillation
| Prominent veins on trunk
| Progressive reticulate hyperpigmentation
| Adermatoglyphia
| Flexural lichenification
| Midface capillary hemangioma
| Ipsilateral lack of facial sweating
| Increased groin pigmentation with raindrop depigmentation
| Macular flecks
| Myofibrillar myopathy

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