phenofolder

| Generalized muscular appearance from birth
| Minimal subcutaneous fat
| Exercise-induced muscle cramps
| Generalized anhidrosis
| Focal hyperextensible skin
| Atretic gallbladder
| Acholic stools
| Right aortic arch
| Ph-positive acute lymphoblastic leukemia
| Congenital portosystemic venous shunt
| Galactosuria
| Hypergalactosemia
| Abnormality of ornithine metabolism
| Hyperornithinemia
| Laryngeal edema
| Reduced factor XII activity
| Hypochromic microcytic anemia
| Acute monocytic leukemia
| Coombs-positive hemolytic anemia
| Severe short-limb dwarfism
| Prolonged bleeding after surgery
| Medially deviated second toe
| Partial fusion of tarsals
| Widely spaced toes
| Osteolysis of talus
| Short 4th toe
| Ankylosis of feet small joints
| Premature epimetaphyseal fusion
| Posterior lenticonus
| Generalized seborrheic dermatitis
| Abnormality of the humerus
| Transient aminoaciduria
| Abnormal cartilage collagen
| Abnormality of zinc homeostasis
| Abnormal cone-mediated electroretinogram
| Cerebellar cortical atrophy
| Transient hyperlipidemia
| Metopic depression
| Depressed glabella
| Vertical forehead creases
| Prominent forehead
| Elevated C-reactive protein level
| Aplasia/Hypoplasia affecting the eyelid
| Epiblepharon
| Ablepharon
| Partial duplication of the middle phalanges of the hand
| Broad eyebrow
| Horizontal eyebrow
| Decreased serum complement factor I
| Defective B cell differentiation
| Precocious puberty in females
| Overgrowth of middle finger
| Abnormality of the 3rd finger
| Accessory middle-finger phalanges
| Patchy sclerosis of toe phalanx
| Symphalangism affecting the phalanges of the toes
| Abnormality of the hip joint
| Broad phalanx of the toes
| Bullet-shaped toe phalanx
| Curved toe phalanx
| Osteolytic defects of the phalanges of the toes
| Small epiphyses of the toes
| Joint stiffness
| Triangular epiphyses of the toes
| Aplasia/Hypoplasia of the phalanges of the toes
| Mesocardia
| Right aortic arch with retroesophageal left subclavian artery
| Aplasia of the thymus
| Ivory epiphysis of the middle phalanx of the 4th toe
| Left aortic arch with cervical origin of the right subclavian artery
| Double aortic arch
| Left aortic arch with retroesophageal diverticulum of Kommerell
| Left aortic arch with isolated subclavian artery
| Left aortic arch with retroesophageal right subclavian artery
| Right aortic arch with retroesophageal diverticulum of Kommerell
| Right aortic arch with left descending aorta and left ductus arteriosus
| Left aortic arch with right descending aorta and right ductus arteriosus
| Fragmentation of the epiphysis of the middle phalanx of the 4th toe
| Enlarged epiphysis of the middle phalanx of the 4th toe
| Joint hypermobility
| Cone-shaped epiphysis of the middle phalanx of the 4th toe
| Hemihypertrophy
| Bracket epiphysis of the middle phalanx of the 4th toe
| Cat cry
| Large for gestational age
| Death in infancy
| Severe failure to thrive
| Aplasia/Hypoplasia of the abdominal wall musculature
| Abnormality of the 2nd toe
| Porokeratosis
| Chylothorax
| Aplasia/Hypoplasia of the breasts
| Asymmetry of the breasts
| Breast hypertrophy
| Premature thelarche
| Aplasia/Hypoplasia of the diaphragm
| Ebstein's anomaly of the tricuspid valve
| Scapular aplasia
| Choroidal neovascularization of the macula
| Genetic anticipation with paternal anticipation bias

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