phenofolder

| Flexion contracture of 3rd toe
| Abnormality of the phalanges of the 3rd toe
| Aplasia/Hypoplasia of the 3rd toe
| Atresia of the external auditory canal
| Mixed hearing impairment
| Protruding ear
| EEG with spike-wave complexes (2.5-3.5 Hz)
| Slender nose
| Bulbous nose
| Abnormality of the choanae
| Abnormality of the tibial plateaux
| Persistent bleeding after trauma
| Cupped ulnar metaphysis
| Shoulder subluxation
| Microcytic anemia
| Enlarged epiphyses of the 2nd toe
| Dumbbell-shaped metaphyses
| Sparse/absent eyelashes
| Coxa vara
| Abnormality of limb bone morphology
| Abnormality of the lower limb
| Abnormality of the knees
| Genu recurvatum
| Abnormality of the upper limb
| Abnormality of the radius
| Stippled calcification of the shoulder
| Sparse lateral eyebrow
| Abnormality of complement system
| Decreased/absent ankle reflexes
| Broad long bones
| Absent ossification of calvaria
| Recurrent mandibular subluxations
| Trapezoidal shaped vertebral bodies
| Posterior fusion of lumbosacral vertebrae
| Sleepy facial expression
| Forehead hyperpigmentation
| Osteoporosis of vertebrae
| Coronary artery fistula
| Irregular epiphyses of the 2nd toe
| Nonprogressive visual loss
| Single coronary artery origin
| Choroidoretinal degeneration
| Asymmetry of iris pigmentation
| Recurrent spontaneous abortion
| Ribbonlike corneal degeneration
| Coronary sinus atrial septal defect
| Colorectal polyps
| Abnormality of the incisor
| Oligodontia
| Anodontia
| Macrodontia of permanent maxillary central incisor
| Carious teeth
| Sinus of Valsalva aneurysm
| Shortened outer dynein arms
| Dental crowding
| Taurodontia
| Reduced muscle fiber emerin
| Substantia nigra gliosis
| Absent/shortened outer dynein arms
| Postductal coarctation of the aorta
| Absent muscle fiber delta sarcoglycan
| Reduced muscle fiber delta sarcoglycan
| Abnormal muscle fiber alpha dystroglycan
| Abnormality of renal calyx morphology
| Absent muscle fiber dysferlin
| Reduced muscle fiber dysferlin
| Abnormal muscle fiber emerin
| Absent muscle fiber emerin
| Naevus flammeus of the eyelid
| Pallor of dorsal columns of the spinal cord
| Cranial nerve paralysis
| Atrophy of the spinal cord
| Polymicrogyria, anterior to posterior gradient
| Severe muscular hypotonia
| Ocular albinism
| Periorbital hyperpigmentation
| Retinal atrophy
| Macular hypoplasia
| Abnormality of the macula
| Angioid streaks of the retina
| Iritis
| Heterochromia iridis
| Chorioretinal hypopigmentation and hyperpigmentation
| Decreased central vision
| Curly eyelashes
| Cystic retinal degeneration
| Impaired pursuit initiation and maintenance
| Pleuritis
| Abnormality of the pleura
| Recurrent aspiration pneumonia
| Abnormal lung lobation
| Pneumothorax
| Apnea
| Hemoptysis
| Spontaneous pneumothorax
| Abnormality of the bronchi
| Absent in utero ossification of vertebral bodies
| Ectopic thyroid
| Lingual thyroid
| Posterior capsular cataract

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