Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy

Alternative Names

  • MSCCA
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other disorders of the nervous system

OMIM Number

615760

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p21.31

Description

Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615760.1United Arab EmiratesMaleNoYes Global developmental delay; Intellectual... NM_005051.3:c.1058G>THomozygousAutosomal, RecessiveAlabdullatif et al. 2017
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