phenofolder

| Small epiphysis of the distal phalanx of the 4th finger
| Narrow joint spaces of the elbow
| Enlarged epiphysis of the distal phalanx of the 4th finger
| Cone-shaped epiphysis of the distal phalanx of the 4th finger
| Bracket epiphysis of the distal phalanx of the 4th finger
| Absent epiphysis of the distal phalanx of the 4th finger
| Pseudoepiphysis of the distal phalanx of the 4th finger
| Bruxism
| Irregular epiphysis of the distal phalanx of the 4th finger
| Fragmentation of the epiphysis of the distal phalanx of the 4th finger
| Abnormality of the epiphyses of the elbow
| Stippled calcification of the elbow
| Osteoarthritis of the elbow
| Knee osteoarthritis
| Posterior subluxation of radial head
| Anterior radial head dislocation
| limited knee flexion/extension
| Short tibia
| Abnormal metaphyseal trabeculation
| Cortical irregularity
| Abnormality of the epiphysis of the middle phalanx of the 3rd toe
| Spinal stenosis with reduced interpedicular distance
| Renal corticomedullary cysts
| Nephrotic syndrome
| Polyuria
| Renal agenesis
| Enlarged kidneys
| Renal cyst
| Broad femoral neck
| Asymmetric radial dysplasia
| Peg-like central prominence of distal tibial metaphyses
| Abnormality of the epiphysis of the middle phalanx of the 4th toe
| Elongated radius
| Extrahepatic biliary duct atresia
| Rudimentary to absent tibiae
| Abnormality of the periorbital region
| Chronic leukemia
| Abnormality of the kinin-kallikrein system
| Dermatoglyphic variants
| Metacarpophalangeal synostosis
| Spinal instability
| Aphalangy of the hands
| Abnormality of the metopic suture
| Absent ossification of cervical vertebral bodies
| Spatulate thumbs
| Abnormality of the pancreas
| Agenesis of central incisor
| Advanced eruption of teeth
| Hypomineralization of enamel
| Acral ulceration and osteomyelitis leading to autoamputation of digits
| Yellow-brown discoloration of the teeth
| Chronic pancreatitis
| Multiple unerupted teeth
| Generalized hypoplasia of dental enamel
| Pancreatic cysts
| Neovascularization of peripheral and posterior retina
| Anterior segment of eye aplasia
| Impaired smooth pursuit
| Vitreoretinal abnormalities
| Retinal hypoplasia
| Sparse lower eyelashes
| Chorioretinal scars
| Hypoplasia of the ciliary body
| Spinal meningioma
| Spontaneous hematomas
| Diffuse cerebral atrophy
| Semilobar holoprosencephaly
| Calcification of the small brain vessels
| Progressive inability to walk
| Macroorchidism, postpubertal
| Spinocerebellar tract degeneration
| Abnormality of the cerebral white matter
| Spasticity of pharyngeal muscles
| Myopathic facies
| Cerebral atrophy
| Brainstem dysplasia
| Limb hypertonia
| Urinary glycosaminoglycan excretion
| Elevated serum creatine phosphokinase
| Abnormality of the fifth cranial nerve
| Decreased sweating due to autonomic dysfunction
| Small humeral epiphyses
| Generalized papillary lesions
| Depigmentation/hyperpigmentation of skin
| Abnormality of the humeral epiphyseal plate
| Absence of subcutaneous fat
| Cavernous hemangioma of the face
| Broad humeral epiphyseal plate
| Diffuse skin atrophy
| Diffuse telangiectasia
| Impaired two-point discrimination
| Impaired touch localization
| Agraphesthesia
| Increased cerebral lipofuscin
| Increased urinary hypoxanthine
| Hypertyrosinemia
| Parietal encephalocele
| Basal encephalocele
| Nasofrontal encephalocele
| Submucous cleft soft palate

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