Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities

Alternative Names

  • NEDMISBA
  • Microcephaly 15, Primary, Autosomal Recessive
  • MCPH15
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

616486

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p34.2

Description

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616486.1Saudi ArabiaFemaleYesYes Aplasia/Hypoplasia of the cerebellum; Hy...NM_032793.5:c.476C>THomozygousAutosomal, RecessiveShaheen et al. 2019
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