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Differential Diagnosis For PATH/Amyloid plaques CNS, Family history/Dwarfism

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List of current finding(s):

Infectious Disorders (Specific Agent)
Creutzfeld-Jakob disease
Metabolic, Storage Disorders
Renal tubular disorders/metabolic
Mucopolysaccharidoses
Hurler's mucopolysaccharidosis syndrome
Renal tubular acidosis type IV
Gangliosidosis, generalized (GM1)
Hunter's mucopolysaccharidosis syndrome
Hurler-Scheie compound syndrome/mucopol
Maroteaux-Lamy Mucopolysaccharidosis VI Syndrome
Morquio's mucopolysaccharidosis synd.
Sanfilippo's mucopolysaccharidosis synd
Scheie syndrome
Tryptophanemia
Congenital, Developmental Disorders
Renal tubular acidosis
Renal tubular acidosis, proximal/type 2
Mulibrey Nanism syndrome
Achondrogenesis
Achondroplasia
Anetoderma/osteogenesis imperfecta (Blegvad-Haxthausen)
Metatropic dwarfism (Kneist Dysplasia)
Hereditary, Familial, Genetic Disorders
Achondrogenesis I/Parenti-Fraccaro
Osteogenesis imperfecta
Pseudo-pseudohypoparathyroidism
Johanson Blizzard genetic syndrome (unco)
Pseudohypoparathyroidism
Weill-Marchesani syndrome
Achondrogenesis II/Langer-Saldino
Bird-headed dwarf of Seckel
Cockayne syndrome
Dolichospondylic dysplasia
Metaphyseal chondrodysplasia
Schwartz-Jampel syndrome
Scott's Craniodigital syndrome
Shwachman (Shwachman-Diamond) syndrome
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome
Spondylometaphyseal dysplasia syndrome
Williams syndrome/Elfin facies
Usage, Degenerative, Necrosis, Age Related Disorders
Alzheimer's syndrome
Gerstmann-Straussler-Scheinker (GSS) Disease
Vegetative, Autonomic, Endocrine Disorders
Dwarfism, pituitary
Reference to Organ System
Renal osteodystrophy
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