Neurodevelopmental Disorder with Hypotonia, Facial Dysmorphism and Brain Abnormalities
Autozomálně recesivní
Caused by loss-of-function changes in both copies of PPP1R21, which encodes a regulatory subunit of protein phosphatase 1. Only a limited number of families have been reported.
Příznaky a projevy
Low muscle tone from infancy with global developmental delay and intellectual disability, often with feeding difficulties and poor growth. Distinctive facial features and eye problems such as squint, nystagmus or optic atrophy are common, and brain MRI can show white matter or cerebellar differences. Less often there are seizures or heart anomalies.
Co se diagnózou změní
Developmental, feeding and therapy support, with eye, neurological and growth assessment. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Analyzované geny
