phenofolder

| Cervical vertebral dysplasia
| Abnormal sacral segmentation
| Central vertebral hypoplasia
| Cervical instability
| Cervical vertebral facet hypoplasia
| Hypoplastic spinal processes
| Thoracic hemivertebrae
| Absent vertebrae
| Absent spinous processes of lower thoracic and lumbar vertebrae
| Partial duplication of the 1st metatarsal
| Complete duplication of the 1st metatarsal
| Duplication of the proximal phalanx of the hallux
| Triangular shaped proximal phalanx of the hallux
| Symphalangism affecting the proximal phalanx of the hallux
| Patchy sclerosis of the proximal phalanx of the hallux
| Partial duplication of the distal phalanx of the hallux
| Pes cavus
| Partial duplication of the proximal phalanx of the hallux
| Complete duplication of the proximal phalanx of the hallux
| Dialeptic seizures
| Typical absence seizures
| Age-related posterior subcapsular cataract
| Symptomatic seizures
| Age-related nuclear cataract
| Age-related cortical cataract
| Gastrointestinal duplication
| Age-related cataract
| Progressive extrapyramidal movement disorder
| Absence seizures with special features
| Absence seizures with eyelid myoclonia
| Aplasia/Hypoplasia involving the musculature
| Aplasia/Hypoplasia involving the shoulder musculature
| Amyotrophy involving the shoulder musculature
| Contiguous gene syndrome
| Aplasia/Hypoplasia involving the musculature of the upper limbs
| Aplasia/Hypoplasia involving the musculature of the upper arm
| Abnormality of the musculature of the pelvis
| Allodynia
| Epiphyseal stippling of finger phalanges
| Small epiphyses of the phalanges of the hand
| Pseudoepiphyses of the phalanges of the hand
| Ivory epiphyses of the phalanges of the hand
| Irregular epiphyses of the phalanges of the hand
| Fragmentation of the epiphyses of the phalanges of the hand
| Enlarged epiphyses of the phalanges of the hand
| Cone-shaped epiphyses of the phalanges of the hand
| Paralysis due to lesions of the principle motor tracts
| Percussion myotonia
| Aplasia of the middle phalanx of the hand
| Triangular epiphyses of the phalanges of the hand
| Shortened QT interval
| Abnormality of the epiphysis of the middle phalanx of the 3rd finger
| Absent epiphysis of the distal phalanx of the 3rd finger
| Bracket epiphysis of the distal phalanx of the 3rd finger
| Cone-shaped epiphysis of the distal phalanx of the 3rd finger
| Stippling of the epiphysis of the middle phalanx of the 3rd finger
| Triangular epiphysis of the middle phalanx of the 3rd finger
| Abnormality of the epiphysis of the distal phalanx of the 3rd finger
| Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
| Enlarged epiphysis of the distal phalanx of the 3rd finger
| Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
| Reduction of oligodendroglia
| Abnormality of the microglia
| Enlarged ovaries
| Enlarged uterus
| Abnormality of the pia mater
| Abnormality of the arachnoid mater
| Tongue thrusting
| Arachnoid cyst
| Abnormality of the glial cells
| Cortical visual impairment
| Abnormality of the astrocytes
| Abnormality of the oligodendroglia
| Hyperreflexia proximally
| Common carotid artery dissection
| Enlarged hippocampus
| Asymmetric ventricles
| Chronic recurrent multifocal osteomyelitis
| Fifth metacarpal with ulnar notch
| Delayed pneumatization of the mastoid process
| Abnormal cervical curvature
| Atypical or prolonged hepatitis
| Areflexia
| Spastic tetraparesis
| Meningitis
| Tetany
| Bulbar palsy
| Gait disturbance
| Confusion
| Abnormality of the axillary hair
| Herniation of intervertebral nuclei
| Abnormal renal corticomedullary differentiation
| Complex organic aciduria
| Renal aminoaciduria
| Vertebral hyperostosis
| Posterior wedging of vertebral bodies
| Elevated creatine kinase after exercise
| Reduced von Willebrand factor activity
| Hyperkinesis
| Myotonia

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