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Differential Diagnosis For Hypotonia: Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Structural Causes
Duchenne's Muscular Dystrophy/Pseudohypertrophic
Fragile X syndrome/X-linked retardation
Muscular dystrophy
Muscular dystrophy, limb girdle type
Muscular dystrophy, progressive
Nephritis, hereditary (Alports)
Neuropathy, sensory radicular, heredit.
Osteogenesis imperfecta
Chromosome 22q13.3 deletion syndrome (22q13.3)
Juberg Marsidi Genetic syndrome (unco)
Schilder disease/Adrenoleukodystrophy
Beckwith-Wiedemann Syndrome
Zellweger Cerebrhepatorenal syndrome
Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
Canavan disease
Central core disease
Facioscapulohumeral muscular dystrophy
Leukodystrophy, Krabbe
Muscular atrophy, infantile, spinal
Myotonia atrophica (Steinert's disease)
Myotonia congenita (Thomsens d.)
Nemaline myopathy
Oculocerebrorenal dystrophy/Lowe syndrome
Spondylometaphyseal dysplasia syndrome
Abducted thumbs syndrome
Acrocallosal syndrome (ACS)
Andermann Syndrome
Cerebellar ataxia/Cayman type
Hereditary sensory neuropathy (type II)
Kabuki make-up syndrome
Myopathy, Myotubular/Centronuclear
Neuhauser Syndrome
Say Syndrome 1
Ullrich Muscular Dystrophy