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Definition

An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin.

Acronym

IDPFH

Synonyms

Intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Keywords

Mental retardation