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Browse result for Basilicata-Akhtar syndrome
※ introduction A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.
Reference
DiseaseOntology: Basilicata-Akhtar syndrome
Reference
DiseaseOntology: Basilicata-Akhtar syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD09742 | Q8N5Y2 | 10943 | MSL3 | MSL complex subunit 3 | Homo sapiens |
