OBO ID: DOID:0060820 |
Term Name: | syndromic X-linked intellectual disability Nascimento type | Search Ontology: | |
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Definition: | A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (2) | ||
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Ontology: | Human Disease ( DOID:0060820 ) |
OTHER syndromic X-linked intellectual disability Nascimento type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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