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Autosomal recessive Segawa syndrome
Fatal autosomal recessive syndrome

Translation of "Fatal autosomal recessive syndrome " (English → French) :

fatal autosomal recessive syndrome

syndrome fatal autosomal récessif
IATE - Health
IATE - Health


Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.

odontoleucodystrophie
SNOMEDCT-BE (disorder) / 722064003
SNOMEDCT-BE (disorder) / 722064003


Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition.

syndrome de Czeizel
SNOMEDCT-BE (disorder) / 719408007
SNOMEDCT-BE (disorder) / 719408007


Autosomal recessive Segawa syndrome

dystonie dopa-sensible autosomique récessive
SNOMEDCT-BE (disorder) / 715827001
SNOMEDCT-BE (disorder) / 715827001




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'Fatal autosomal recessive syndrome'

Date index:2021-07-06 -

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