glycosylphosphatidylinositol biosynthesis defect 15
A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.
MONDO:0020022
central nervous system malformation
excluded_subClassOf
MONDO:0002525
inherited lipid metabolism disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0024321
disorder of GPI anchor biosynthesis
is_a
GPIBD15
related
glycosylphosphatidylinositol biosynthesis defect 15
exact
SPAC1002.11