phenofolder

| Patchy distortion of vertebrae
| Anteriorly placed odontoid process
| Hyperconvex vertebral body endplates
| Cervical vertebral fusion (C2/C3)
| Spina bifida occulta at L5
| Anterior beaking of lower thoracic vertebrae
| Unossified vertebral bodies
| Absent vertebral body mineralization
| Facial muscle hypertrophy
| 3-4 finger cutaneous syndactyly
| Hypoplastic fifth toenail
| Decreased plasma total carnitine
| Decreased urinary urate
| Mesenteric artery aneurysm
| Elongated superior cerebellar peduncle
| Abnormality of the superior cerebellar peduncle
| Abnormality of the cerebellar peduncle
| Hyperextensible skin of chest
| Partial absence of thumb
| Aplasia/Hypoplasia of the phalanges of the thumb
| Triangular shaped thumb phalanx
| Symphalangism of the thumb
| Patchy sclerosis of thumb phalanx
| Osteolytic defect of thumb phalanx
| Curved thumb phalanx
| Bullet-shaped thumb phalanx
| Short distal phalanx of the thumb
| Absent ethmoidal sinuses
| Elevated factor V activity
| Progressive ptosis
| S-shaped palpebral fissures
| Progressive cataract
| Mosaic corneal dystrophy
| Nonprogressive restrictive external ophthalmoplegia
| Adult-onset night blindness
| Anterior chamber synechiae
| Pigmentation of the sclera
| Abnormal thalamic size
| Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal
| Joint contracture of the hand
| Contracture of the proximal interphalangeal joint of the 3rd finger
| Contracture of the metacarpophalangeal joint of the 3rd finger
| Proximal/middle symphalangism of 4th finger
| Focal T2 hypointense thalamic lesion
| Enlarged epiphyses of the 5th finger
| Cone-shaped epiphyses of the 5th finger
| Irregular epiphyses of the 5th finger
| Fragmentation of the epiphyses of the 5th finger
| Short finger
| Aplasia of the fingers
| Bracket epiphyses of the 5th finger
| Absent epiphyses of the 5th finger
| Pseudoepiphyses of the 5th finger
| Ivory epiphyses of the 5th finger
| Abnormal thalamic MRI signal intensity
| Decreased thalamic volume
| Enlarged thalamic volume
| Enlarged fossa interpeduncularis
| Pituitary gonadotropic cell adenoma
| Pituitary acidophilic stem cell adenoma
| Posterior pituitary dysgenesis
| Neoplasm of the posterior pituitary
| Abnormality of the posterior pituitary
| Neoplasm of the anterior pituitary
| Posterior pituitary hypoplasia
| Posterior pituitary agenesis
| Ectopic posterior pituitary
| Pituicytoma
| Absent malleus
| Enlarged sylvian cistern
| Spider hemangioma
| Enlarged interhemispheric fissure
| Markedly reduced T cell function
| Recurrent bacterial skin infections
| Ventricular escape rhythms
| Increase in B cell number
| Concentric hypertrophic cardiomyopathy
| Primary T-lymphocyte immune abnormalities
| Preductal coarctation of the aorta
| Oncocytic cardiomyopathy
| Recurrent candida infections
| Gonadal hypoplasia
| Giant cell granuloma of mandible
| Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
| Sclerotic forearm bones
| Bullet-shaped middle phalanx of the 2nd toe
| Curved middle phalanx of the 2nd toe
| Patchy sclerosis of the proximal phalanx of the 2nd toe
| Symphalangism affecting the proximal phalanx of the 2nd toe
| Triangular shaped proximal phalanx of the 2nd toe
| Reticulated skin pigmentation
| Osteolytic defects of the middle phalanx of the 2nd toe
| Abnormality of the adrenal glands
| Increased testosterone
| Myotonia with warm-up phenomenon
| Pseudoepiphyses of second metacarpal
| Abnormal drinking behavior
| Two carpal ossification centers present at birth
| Proximal phalangeal periosteal thickening
| Metacarpal diaphyseal endosteal sclerosis

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