OBO ID: DOID:0111838 |
Term Name: | Basilicata-Akhtar syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | 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. https://www.ncbi.nlm.nih.gov/pubmed/30224647 | ||
References: | |||
Ontology: | Human Disease ( DOID:0111838 ) |
OTHER Basilicata-Akhtar syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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MSL3 | Basilicata-Akhtar syndrome |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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