Holmes-Gang-syndroom (aandoening) DEPRECATED
Holmes-Gang-syndroom
syndroom van Holmes-Gang
Holmes Gang syndrome
Holmes Gang syndrome is an X-linked mental retardation syndrome that was first described in 1984 in three males from two generations of the same family. The syndrome has characteristics of microcephaly, a large anterior fontanelle, characteristic facies (short nose, anteverted nares, epicanthal folds), club-foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy. The syndrome is caused by mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive.
Id721224008
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2021-07-31)