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Protein Domain : AT-hook DNA-binding motif-containing protein 1

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 [].

0 Child Features

0 Parent Features

1 Protein Domain Regions