Hypothalamic hamartomas [Supplementary Concept]
Hamartomas that occur in the HYPOTHALAMUS. Hypothalamic hamartoma syndrome is a CONGENITAL DISORDER that results in various growth and neurologic abnormalities and is usually lethal within the first month after birth. Chromosomal abnormalities involving the GLI3 gene have been identified. OMIM: 241800
Date introduced: August 25, 2010
MeSH Unique ID: C537158
Heading Mapped to:
Entry Terms:
- Hypothalamic hamartoma
- Hamartoma of the hypothalamus
- Congenital hypothalamic hamartoma syndrome