Kocher-Debre-Semelaigne syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0270958

JABL: Infantile myxedema (Brissaud syndrome 1) associated with muscle hypertrophy affecting mainly the the extremities, giving the affected children the "herculean" (prize-fighter, athletic, or pseudo-athletic appearance). The phenotype may also include characteristic facies, retarded mental and physical development, delayed dentition, and other disorders.

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