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| Pseudoepiphysis of the proximal phalanx of the 5th finger
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| Stippling of the epiphysis of the proximal phalanx of the 5th finger
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| Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
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| Corticospinal tract pallor
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| Irregular epiphysis of the middle phalanx of the 5th finger
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| Aplasia/Hypoplasia of the hallux
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| Aplasia/Hypoplasia of the tarsal bones
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| Generalized osteosclerosis
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| Abnormal cervical myelogram
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| Abnormality of the calcaneus
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| Lumbar platyspondyly
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| Contractures of the large joints
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| Absent fourth finger distal interphalangeal crease
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| Abnormality of the talus
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| Erectile abnormalities
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| Neoplasia of the pharynx
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| Inferior lens subluxation
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| Neoplasm of the adrenal gland
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| Neoplasia of the nasopharynx
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| Esophagitis
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| Pulmonary sequestration
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| Carotid paraganglioma
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| Neuroendocrine neoplasm
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| Neoplasia of the nose
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| Pulmonary paraglioma
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| Abnormality of the dental pulp
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| Anterior bowing of long bones
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| Thin long bone diaphyses
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| Fixed elbow flexion
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| Abnormality of the pancreatic islet cells
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| Abnormality of the alveolar ridges
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| Thinning and bulging of the posterior fossa bones
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| Prominent nasal bridge
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| Broad middle phalanx of the 2nd toe
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| Congenital finger flexion contractures
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| Enlarged sagittal diameter of the cervical canal
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| Polysyndactyly of hallux
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| Brachytelomesophalangy
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| Metaphyseal chondrodysplasia
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| Multiple small vertebral fractures
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| Progressive flexion contractures
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| Increased dermatoglyphic whorls
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| Chondrocalcinosis
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| Onycholysis
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| Ridged nail
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| Hypoplastic fingernail
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| Thick nail
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| Absent toenail
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| Nail pits
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| Hypoplastic toenails
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| Butterfly retinal pigment epithelial dystrophy
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| Peripheral retinal cone degeneration
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| Sclerosis of the distal phalanx of the 4th toe
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| Cortical pulverulent cataract
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| Posterior subcapsular cataract
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| Lacunar retinal depigmentation
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| Fragile nails
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| Split nail
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| Parathyroid carcinoma
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| Hurthle cell thyroid adenoma
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| Malignant eosinophil proliferation
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| Posterior pharyngeal cleft
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| Paranasal sinus hypoplasia
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| Limb-girdle muscular dystrophy
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| Mitochondrial encephalopathy
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| Extra-axial cerebrospinal fluid accumulation
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| Temporal optic disc pallor
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| Diffuse optic disc pallor
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| Upper limb pain
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| Lower limb pain
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| Hip flexor weakness
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| Tetralogy of Fallot with pulmonary atresia
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| Reduced catalase activity
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| Abnormality of circle of Willis
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| Hypoplastic posterior communicating artery
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| Generalized hyperkeratosis
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| Mastocytosis
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| Heavy supraorbital ridges
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| Vitamin B3 deficiency
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| Abnormality of pyramidal motor function
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| Abnormality of the joints of the lower limbs
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| Recurrent external ophthalmoplegia
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| Hypoammonemia
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| Curved linear dimple below the lower lip
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| Tibial deviation of toes
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| Severe demyelination of the white matter
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| Atrial septal aneurysm
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| Prominent glabella
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| Abnormality of the atrial septum
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| Postprandial hyperlactemia
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| Abnormality of the stomach
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| Intussusception
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| Tracheoesophageal fistula
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| Episodic abdominal pain
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| Hematochezia
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| Episodic vomiting
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| Achalasia
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| Steatorrhea
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| Abnormal neutrophil cell number
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| Gastrointestinal dysmotility
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