Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities (NEDMISBA)

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Disease Ontology 12 DOID:0070277 OMIM® 57 616486 OMIM Phenotypic Series 57 PS251200

MeSH 44 D008831 MedGen 41 C4225310 CN231738 SNOMED-CT via HPO 68 128613002 16026008 204043002 224958001 246545002 246799009 249808002 252157006 255314001 258211005 282145008 298282001 313307000 397932003 40700009 84757009 86854008 91175000 9447003 more

OMIM® : ⁵⁷ 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 (summary by Harel et al., 2018). (616486) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities, also known as primary autosomal recessive microcephaly 15, is related to seckel syndrome 8 and microcephaly 18, primary, autosomal dominant. An important gene associated with Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities is MFSD2A (Major Facilitator Superfamily Domain Containing 2A). Affiliated tissues include brain and cortex, and related phenotypes are hyperreflexia and global developmental delay

Disease Ontology : ¹² A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has material basis in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.

UniProtKB/Swiss-Prot : ⁷³ Microcephaly 15, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.

Clinical features from OMIM®:

616486 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities.