1p21.3 microdeletion syndrome

Also known as: Del(1)p(21.3), Monosomy 1p21.3

Definition

Orphanet

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Delayed speech and language development Poor speech acquisition, Deficiency of speech development, Impaired speech development, Speech and language difficulties, Language delayed, Language development deficit, Impaired speech and language development, Delayed speech development, Speech delay, Language delay, Speech difficulties, Delayed speech, Delayed speech acquisition, Late-onset speech development, Speech and language delay, Delayed language development [more] A degree of language development that is significantly below the norm for a child of a specified age.

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