Regression

Gene: UBTF

Green List (high evidence)

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy. Recurrent de novo variant p.Glu210Lys reported in more than 10 unrelated individuals.

Created: 7 Jun 2021, 12:10 a.m. | Last Modified: 7 Jun 2021, 12:10 a.m.

Panel Version: 0.331

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701

Publications

• 28777933
• 29300972