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Differential Diagnosis For Head Neck Floppy Infant Hypotonia Sign: Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Degenerative-Age Related Causes
Hereditary neuropathy
Muscular dystrophy
Muscular dystrophy, progressive
Spinal muscle atrophy
Spinal muscle atrophy, infantile
Chromosome 22q13.3 deletion syndrome (22q13.3)
Juvenile spinal muscle atrophy (Kugelberg-Welander)
Mitochondrial myopathy/MERRF
Beckwith-Wiedemann Syndrome
MELAS Encephalopathy
Dominant SCA/Spinal Cerebellar ataxias
Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
Canavan disease
Central core disease
Cerebellar ataxia, congenital/hered.
Dysautonomia, familial
Leukodystrophy, Krabbe
Muscular atrophy, infantile, spinal
Myotonia congenita (Thomsens d.)
Nemaline myopathy
Oculocerebrorenal dystrophy/Lowe syndrome
Oculopharyngeal muscular dystrophy
Progressive spinal muscular atrophy
Abducted thumbs syndrome
Congenital Muscular Dystrophy
Hereditary dysmyelinating neuropathy
Hereditary sensory neuropathy (type II)
Myopathy, Desmin Storage type/Sarcoplasmin bodies
Myopathy, Myotubular/Centronuclear
Say Syndrome 1
Welander syndrome (See Kugelberg Welander)