We previously reported 22 patients with SRRM2 loss of function variants. All patients had developmental delay predominantly on language acquisition (16/19). Motor delay was less common: 8 of 22 patients started to walk after 18 months, but all of them started to walk before 24 months. When present and evaluable, ID was mild (16/20) and IQ ranged from 50 to 70. Although autistic features seemed frequent (9/22), some patients were reported to have a friendly sociable personality (8/22), sometimes excessively. Attention-deficit/hyperactivity disorder was also reported (6/22). Global hypotonia seems to be recurrent (9/ 22), sometimes present at birth (4/22) and then accompanied by neonatal feeding difficulties (5/22). Postnatal overweight was observed in 12 of 22 patients, with obesity in 7 of 22, sometimes before age 4 years. An eating disorder with hyperphagia, food obsession, and lack of satiety was reported for 4 of them.
SRRM2