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disease: 22q13.3 deletion syndrome

id1445
name22q13.3 deletion syndrome
descriptionPhelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.
variant-disease NM_033517.1(SHANK3):c.3627C>T (p.Leu1209=) AND 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.4029_4030del (p.Ser1343fs) AND 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.3883delG (p.Glu1295Argfs) AND 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.1010C>G (p.Thr337Ser) AND 22q13.3 deletion syndrome
NM_033517.1(SHANK3):c.317A>C (p.Gln106Pro) AND 22q13.3 deletion syndrome
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