phenofolder

| Hypoplasia of the pyramidal tract
| Infancy onset short-trunk short stature
| Limbic malformations
| Partial duplication of the middle phalanx of the 4th toe
| Diffuse swelling of cerebral white matter
| Lower limb muscle weakness
| Subcortical white matter calcifications
| Atrophy/Degeneration involving the spinal cord
| Lethal short-trunk short stature
| Partial duplication of the proximal phalanx of the 3rd toe
| Abnormal umbilical cord blood vessels
| Contractures of the proximal interphalangeal joint of the 5th toe
| Demyelinating sensory neuropathy
| Ulnar deviation of the 2nd finger
| Medullary nephrocalcinosis
| Cortical nephrocalcinosis
| Delayed peripheral myelination
| Increased urine alpha-ketoglutarate concentration
| Decreased urine alpha-ketoglutarate concentration
| Abnormal aldolase level
| Abnormal CNS myelination
| Hypercitraturia
| Scissor gait
| Abnormal urine citrate concentration
| Hypocitraturia
| Reduced factor VII activity
| Asymptomatic hyperammonemia
| Decreased circulating cortisol level
| 3-hydroxydicarboxylic aciduria
| Absent leukocyte alkaline phosphatase
| Decreased beta-galactosidase activity
| Very long chain fatty acid accumulation
| Ulnar deviation of finger
| Reduced circulating T-helper cells
| Hepatocellular carcinoma
| Small epiphyses of the upper limbs
| Reduced prothrombin consumption
| Wide epiphyseal plates of the upper limbs
| Low gonadotropins (secondary hypogonadism)
| Delayed upper limb epiphyseal ossification
| Fragmented epiphyses of the upper limbs
| Irregular epiphyses of the upper limbs
| Round epiphyses of the upper limbs
| Cupped metaphyses of the upper limbs
| Flared metaphyses of the upper limbs
| Focal necrosis of right ventricular muscle cells
| Pyrimidine-responsive megaloblastic anemia
| Hepatocellular necrosis
| Periportal fibrosis
| Abnormality of macrophages
| Hypoplasia of the nasal bone
| Hypogammaglobulinemia
| Abnormality of reticulocytes
| IgG deficiency
| Distal renal tubular acidosis
| Hypoaldosteronism
| Immunoglobulin IgG2 deficiency
| High anterior hairline
| Dentinogenesis imperfecta of primary and permanent teeth
| Bifid xiphoid process
| Prominent xiphoid process
| Osteolytic defects of the hand bones
| Hypoplasia of the ear cartilage
| Pseudoepiphysis of the thumb
| Ivory epiphysis of the thumb
| Irregular thumb epiphysis
| Fragmentation of thumb epiphysis
| Contracture of the distal interphalangeal joints of the fingers
| C1-C2 subluxation
| Stippling of thumb epiphysis
| Small thumb epiphysis
| Ivory epiphysis of the distal phalanx of the 3rd finger
| Irregular epiphysis of the distal phalanx of the 3rd finger
| Small epiphysis of the distal phalanx of the 3rd finger
| Pseudoepiphysis of the distal phalanx of the 3rd finger
| Triangular epiphysis of the distal phalanx of the 3rd finger
| Stippling of the epiphysis of the distal phalanx of the 3rd finger
| Bracket epiphysis of the proximal phalanx of the 3rd finger
| Absent epiphysis of the proximal phalanx of the 3rd finger
| Enlarged epiphysis of the proximal phalanx of the 3rd finger
| Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
| Rectal polyposis
| Symphalangism of the 2nd finger
| Short middle phalanx of the 3rd finger
| Absent middle phalanx of 3rd finger
| Connective tissue nevi
| Complete duplication of the proximal phalanges of the hand
| Complete duplication of the distal phalanges of the hand
| Complete duplication of the middle phalanges of the hand
| Partial duplication of the proximal phalanges of the hand
| Partial duplication of the distal phalanges of the hand
| Abnormality of the phalanges of the 2nd finger
| Duplication of the proximal phalanx of hand
| Duplication of the middle phalanx of hand
| Abnormality of the 1st metacarpal
| Contracture of the proximal interphalangeal joint of the 2nd finger
| AV nodal reentry tachycardia
| Junctional ectopic tachycardia
| Trifascicular block
| Libman-Sacks lesions

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