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Definition

An autosomal recessive syndrome characterized by congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and severe global developmental delay with profound intellectual disability, spasticity or dystonia. Brain imaging shows intracerebral calcifications.

Acronym

MISSBC

Synonyms

Microcephaly with spastic quadriplegia

Keywords

Epilepsy
Primary microcephaly
Mental retardation