progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN

Findings

No curated finding names progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• developmental anomaly of metabolic origin
• disorder of lysosomal-related organelles
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability