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Definition

An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment.

Acronym

CCAFCA

Synonyms

Birk-Flusser syndrome
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia

Keywords

Mental retardation