19p13.13 microdeletion syndrome
From BugSigDB
19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
- Aliases
- 19p13.13 microdeletion syndrome
- chromosome 19p13.13 deletion syndrome
- chromosome 19p13.13 deletion syndrome
- chromosome 19P13.13 Duplication syndrome
- Del(19)(p13.13)
- Monosomy 19p13.13
- monosomy 19p13.13
