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| Cessation of head growth
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| Craniofacial asymmetry
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| Acrobrachycephaly
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| Plantar crease between first and second toes
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| Advanced tarsal ossification
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| Macrocephaly at birth
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| Abnormality of the pons
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| Aplasia/Hypoplasia of the cerebellum
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| Aplasia/Hypoplasia of the pyramidal tract
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| Aplasia/Hypoplasia of the brainstem
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| Coarse trabeculae (humeral)
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| Aplasia/Hypoplasia of the cerebrum
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| Bifid humerus
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| Atrophy/Degeneration affecting the brainstem
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| Atrophy/Degeneration affecting the cerebrum
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| Centrally nucleated skeletal muscle fibers
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| Cortical thickening (humeral)
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| Cortical thinning (humeral)
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| Variable progression rate
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| Large beaked nose
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| Nonprogressive disorder
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| Hyponasal speech
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| Abnormality of dorsoventral patterning of the limbs
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| Small proximal tibial epiphyses
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| Abnormal hypothalamus physiology
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| Abnormal hypothalamus morphology
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| Hypothalamic luteinizing hormone-releasing hormone deficiency
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| Hepatic amyloidosis
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| Chylous ascites
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| Morbilliform rash
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| Small distal femoral epiphysis
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| Facial midline hemangioma
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| Frontalis muscle weakness
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| Hypoplasia of facial musculature
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| Ulcerative colitis
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| Abnormality of cell physiology
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| Horizontal supranuclear gaze palsy
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| Abnormal distribution of retinal arterioles and venules
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| Salt and pepper retinopathy
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| Nongranulomatous uveitis
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| Herpetiform corneal ulceration
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| Horizontal pendular nystagmus
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| Progressive bifocal chorioretinal atrophy
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| Presenile cataracts
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| Central heterochromia
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| Increased corneal thickness
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| Abnormality of corneal thickness
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| Corneolenticular adhesion
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| Posterior synechiae of the anterior chamber
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| Stippling of the epiphyses of the 3rd finger
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| Small epiphyses of the 3rd finger
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| Abnormality of the lacrimal duct
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| Unilateral microphthalmos
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| Irregular epiphyses of the 3rd finger
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| Fragmentation of the epiphyses of the 3rd finger
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| Pseudoepiphyses of the 3rd finger
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| Ivory epiphyses of the 3rd finger
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| Bracket epiphyses of the 3rd finger
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| Absent epiphyses of the 3rd finger
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| Enlarged epiphyses of the 3rd finger
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| Cone-shaped epiphyses of the 3rd finger
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| Peripheral retinal atrophy
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| Bullet-shaped 1st metacarpal
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| Curved 1st metacarpal
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| Aplasia/Hypoplasia of the 1st metacarpal
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| Broad 1st metacarpal
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| Epiphyseal stippling of the first metacarpal
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| Triangular epiphysis of the 1st metacarpal
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| Pseudoepiphysis of the 1st metacarpal
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| Small epiphysis of the 1st metacarpal
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| Irregular epiphysis of the 1st metacarpal
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| Ivory epiphysis of the 1st metacarpal
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| Dexamethasone-suppresible primary hyperaldosteronism
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| Corticotropin-releasing hormone receptor (CRHR) defect
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| Glomus jugular tumor
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| Adrenocorticotropin (ACTH) deficient adrenal insufficiency
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| Central adrenal insufficiency
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| Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency
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| Primary hyperaldosteronism
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| Abnormality of circulating cortisol level
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| Abnormality of central sensory function
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| Abnormality of adrenal physiology
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| Abnormality of adrenal morphology
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| Hypoplasia of olfactory tract
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| Ganglioneuroma
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| Abnormality of the sublingual glands
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| Alveolar ridge cleft
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| Neuroblastoma
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| Prolonged bleeding following circumcision
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| Thin lower lip vermilion
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| Stomatitis
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| Cleft lower lip
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| Abnormality of the salivary glands
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| Abnormality of the submandibular glands
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| Intra-oral hyperpigmentation
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| Laryngeal atresia
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| Microphthalmos
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| Chorioretinal coloboma
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| Lacrimal duct atresia
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| Esotropia
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