SYNGAP1 , Ian Mohon

Beckett

Some of Beckett’s favorite things to do are swim and listen to music. He loves to play with Pyper and his three older siblings. His laugh is contagious, and his smile lights up a room. Beckett is a fighter and tries hard at everything he does. He never stops. He is our inspiration.

~Monica, Beckett’s Mom

SYNGAP1

SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. Onset is in the first year of life, and the clinical features may be found in different combinations. A majority (but not all) of patients show epilepsy (myoclonic, clonic, and clonic-tonic seizures also during sleep, absences, or drop attacks.) Other observed clinical characteristics include hypotonia, unsteady gait, strabismus, hip dysplasia, and some dysmorphic features.

Artist: Ian Mohon

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Beyond the Diagnosis

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