Primary Identifier | IPR039225 | Type | Family |
Short Name | AHDC1 |
description | AT-hook DNA-binding motif-containing protein 1 (AHDC1) is uncharacterized, but truncating mutations in the gene lead to mental retardation, autosomal dominant 25 (MRD25). Patients suffered hypotonia, intellectual disability, global developmental delay, mildly dysmorphic facial features and in some cases sleep apnea []. |