19p13.13 mikrodelesjon


Engelsk navn: 19p13.13 microdeletion syndrome
Engelske synonym: Del(19)(p13.13),Monosomy 19p13.13


Definisjon

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).

Fra Orphanet

ORPHA: 357001
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

Mer informasjon


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