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Search results 1 to 1 out of 1 for Ahdc1

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
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 [].