Novel mutation in the MED23 gene for intellectual disability: A case report and literature review.
Clin Case Rep
; 7(2): 331-335, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30847200
ABSTRACT
MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency.
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Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article