Disease association ontology term - MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

Term summary

ID

MONDO:0060627

Name

glycosylphosphatidylinositol biosynthesis defect 15

Ontology or CV name

Disease association

Definition

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.

Parents

• excluded_subClassOf central nervous system malformation
• is_a inherited lipid metabolism disorder
• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a disorder of GPI anchor biosynthesis

Annotation