phenofolder

| Fragile skin
| Proximal fibular overgrowth
| Jaw hyporeflexia
| Lethal short-limbed short stature
| Anal fissure
| Hyporeflexia of upper limbs
| Biliary dyskinesia
| Aortic atherosclerosis
| Iodine contrast allergy
| Orthostatic tachycardia
| Peripheral edema
| Pressure ulcer
| Rhizomelia
| Hypertension associated with pheochromocytoma
| Neonatal respiratory distress
| Fragmentation of the epiphysis of the middle phalanx of the 5th toe
| Enlarged epiphysis of the middle phalanx of the 5th toe
| Cone-shaped epiphysis of the middle phalanx of the 5th toe
| Arteriovenous fistulas of celiac and mesenteric vessels
| Absent epiphysis of the middle phalanx of the 5th toe
| Triangular epiphysis of the distal phalanx of the 5th toe
| Abnormal bone ossification
| Abdominal colic
| Giant cell tumor of bone
| Wormian bones
| Short second metatarsal
| Asymmetric, linear skin defects
| Abnormality of skeletal physiology
| Abnormality of skeletal morphology
| Ventricular flutter
| Abnormality of pelvic girdle bone morphology
| Symphalangism affecting the middle phalanx of the 5th toe
| Aortic dissection
| Bullet-shaped phalanges of the hand
| Broad phalanges of the hand
| Aplasia/Hypoplasia of the phalanges of the hand
| Low hanging columella
| Limb pain
| Facial wrinkling
| Anterior clefting of vertebral bodies
| Antecubital pterygium
| Abnormal dermatoglyphics
| Abnormality of the distal phalanx of the 5th finger
| Abnormality of the epiphysis of the middle phalanx of the 5th finger
| Short distal phalanx of the 5th finger
| Curved distal phalanx of the 5th finger
| Short middle phalanx of the 5th finger
| Ivory epiphysis of the distal phalanx of the 5th finger
| Cone-shaped epiphysis of the distal phalanx of the 5th finger
| Axillary and groin hyperpigmentation and hypopigmentation
| Periarticular subcutaneous nodules
| Abnormal iris vasculature
| Increased intraocular pressure
| Retinal malformation
| Hypoplastic lacrimal duct
| Pigmented paravenous chorioretinal atrophy
| Vitreous hemorrhage
| Pseudoepiphysis of the distal phalanx of the 2nd finger
| Ivory epiphysis of the distal phalanx of the 2nd finger
| Bracket epiphysis of the distal phalanx of the 2nd finger
| Absent epiphysis of the distal phalanx of the 2nd finger
| Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
| Abnormality of the epiphysis of the middle phalanx of the 2nd finger
| Irregular epiphysis of the distal phalanx of the 2nd finger
| Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
| Enlarged epiphysis of the distal phalanx of the 2nd finger
| Cone-shaped epiphysis of the distal phalanx of the 2nd finger
| Abnormality of the musculature of the lower limbs
| Prominent superficial blood vessels
| Left superior vena cava draining directly to the left atrium
| Bilateral superior vena cava with no bridging vein
| Right ventricular cardiomyopathy
| Tricuspid atresia
| Anomalous origin of left pulmonary artery from ascending aorta
| Anomalous origin of one pulmonary artery from ascending aorta
| Bilateral superior vena cava with bridging vein
| Abnormality of the foot musculature
| Takotsubo cardiomyopathy
| Left ventricular noncompaction cardiomyopathy
| Triangular shaped phalanges of the 5th toe
| Duplication of the phalanges of the 5th toe
| Microretrognathia
| Abnormality of the midface
| Abnormality of the proximal phalanx of the 5th toe
| Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
| Broad proximal phalanx of the 2nd toe
| Bullet-shaped proximal phalanx of the 2nd toe
| Curved proximal phalanx of the 2nd toe
| Mandibular prognathia
| Oval face
| Abnormality of facial musculature
| Abnormality of the chin
| Pointed chin
| Hemifacial spasm
| Impaired temperature sensation
| Absent thumbnail
| Absent nail of hallux
| Hyperbetaalaninemia
| EEG with centrotemporal focal spike waves
| Colonic varices

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