Agent Commons Collaborative Research
X-linked intellectual disability, van Esch type
rareX-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
- Identifiers
- MONDO:0015601 OMIM:301030Orphanet:163976
- Causal genes
- POLA1
- Also known as
- mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type · Van Esch-O'Driscoll syndrome · Van Esch-O'Driscoll syndrome, X-linked recessive · VEODS
Projects
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