phenofolder

| Late-onset distal muscle weakness
| Stippling of the epiphyses of the 3rd toe
| Triangular epiphyses of the 3rd toe
| Absent epiphyses of the 4th toe
| Bracket epiphyses of the 4th toe
| Irregular epiphyses of the 3rd toe
| Ivory epiphyses of the 3rd toe
| Pseudoepiphyses of the 3rd toe
| Small epiphyses of the 3rd toe
| Abnormality of the lower motor neuron
| Enlarged epiphyses of the 4th toe
| Unilateral cleft palate
| Darwin notch of helix
| Euryblepharon
| Cold-sensitive myotonia
| Myotonia of the upper limb
| Myotonia of the lower limb
| Myotonia of the jaw
| Myotonia of the face
| Broad distal phalanges of all fingers
| Unilateral radial aplasia
| Flattened metacarpal heads
| Abnormal hemoglobin
| Hemoglobin H
| Hypofibrinogenemia
| Dysfibrinogenemia
| Reduced beta/alpha synthesis ratio
| Reduced alpha/beta synthesis ratio
| Persistence of hemoglobin F
| Reduced hemoglobin A
| Fragmentation of the epiphysis of the proximal phalanx of the thumb
| Irregular epiphysis of the proximal phalanx of the thumb
| Abnormality of the epiphysis of the distal phalanx of the thumb
| Abnormality of the epiphysis of the proximal phalanx of the thumb
| Short phalanx of the thumb
| Cone-shaped epiphysis of the proximal phalanx of the thumb
| Enlarged epiphysis of the proximal phalanx of the thumb
| Absent epiphysis of the proximal phalanx of the thumb
| Bracket epiphysis of the proximal phalanx of the thumb
| Abnormality of vitamin metabolism
| Decreased cervical spine mobility
| Cuboid-shaped vertebral bodies
| Cervical vertebrae fusion (C5/C6)
| cervical segmentation defects
| Lower thoracic kyphosis
| Anterior beaking of thoracic vertebrae
| Decreased cervical spine flexion due to contractures of posterior cervical muscles
| Circumungual hyperkeratosis
| Hypoplastic fifth fingernail
| Elevated amniotic fluid alpha-fetoprotein
| Long upper eyelashes
| Amyloid deposition in the vitreous humor
| Attenuation of retinal blood vessels
| Cone-shaped epiphyses of the 5th toe
| Folate deficiency
| Vitamin B8 deficiency
| Triangular shaped phalanges of the 3rd finger
| Aplasia/Hypoplasia of the phalanges of the 3rd finger
| Patchy sclerosis of 3rd finger phalanx
| Symphalangism of the 3rd finger
| Curved phalanges of the 3rd finger
| Osteolytic defects of the phalanges of the 3rd finger
| Broad phalanges of the 3rd finger
| Scapuloperoneal myopathy
| Non-Hodgkin lymphoma
| Ectopia pupillae
| Retinoblastoma
| Aplasia of the phalanges of the 3rd finger
| Hypoplastic/small phalanges of the 3rd finger
| Abnormality of the pectoral muscle
| Abnormal nasal base
| Aplasia of the distal phalanges of the hand
| Sclerosis of foot bone
| Short phalanx of finger
| Abnormality of the parathyroid morphology
| Abnormality of the parathyroid physiology
| Pituitary spindle cell oncocytoma
| Ectopic anterior pituitary
| Abnormality of ocular abduction
| Pituitary carcinoma
| Pituitary growth hormone cell adenoma
| Pituitary null cell adenoma
| Parathyroid dysgenesis
| Ectopic parathyroid
| Unilateral cleft lip
| Death in adolescence
| Time of death
| Peg-shaped maxillary lateral incisors
| Absent in utero rib ossification
| Entrapment neuropathy of the ulnar nerve at elbow
| Unsteady gait
| Decreased T cell activation
| Headache
| Pulmonary valve defects
| Chronic intestinal candidiasis
| Cardiac valve calcification
| Coronary artery stenosis
| Decreased number of sternal ossification centers
| Decreased number of CD8+ T cells
| Episodes of ventricular tachycardia

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