Presentation
Entire Body System
- Weakness
Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short [ncbi.nlm.nih.gov]
- Disability
Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate [ncbi.nlm.nih.gov]
Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short [encyclopedia.pub]
- Short Stature
Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranging from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/ [ncbi.nlm.nih.gov]
The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. [encyclopedia.pub]
- Epilepsy
Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranging from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/ [ncbi.nlm.nih.gov]
[…] developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy [encyclopedia.pub]
- Developmental Delay
[…] speech and language development Global developmental delay Seizure Etiology Congenit Heart Dis 2014 Jan-Feb;9(1):83-6. [ncbi.nlm.nih.gov]
Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short [medlineplus.gov]
Musculoskeletal
- Small Head
head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems. [ncbi.nlm.nih.gov]
head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems. 1. [encyclopedia.pub]
Neurologic
- Seizure
Seizure MedGen UID: 20693 •Concept ID: C0036572 • Sign or Symptom A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal [ncbi.nlm.nih.gov]
[…] include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures [encyclopedia.pub]
- Global Developmental Delay
[…] speech and language development Global developmental delay Seizure Etiology Congenit Heart Dis 2014 Jan-Feb;9(1):83-6. [ncbi.nlm.nih.gov]
- Delayed Speech and Language Development
speech and language development Global developmental delay Seizure Etiology Congenit Heart Dis 2014 Jan-Feb;9(1):83-6. [ncbi.nlm.nih.gov]
- Muscle Tone Abnormalities
Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]
Etiology
[…] system Abnormality of cardiovascular system morphology Abnormality of the musculoskeletal system Generalized hypotonia Abnormality of the nervous system Behavioral abnormality Delayed speech and language development Global developmental delay Seizure Etiology [ncbi.nlm.nih.gov]