PPP2R5D-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder, which is characterized by impaired communications and social interaction, can also occur in affected individuals. Most people with PPP2R5D-related intellectual disability have an unusually large head size (macrocephaly), and some have other unusual facial features, including a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and eyes that slant downward (downslanting palpebral fissures).
Inheritance Pattern
Autosomal dominant
Other Names
Autosomal dominant mental retardation 35
Related Genetics Topics
- PPP2R5D — MedlinePlus Genetics
Identifiers
- GTR: C4225345
- MeSH: D008607
- OMIM: 616355
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
