chromosome 18q deletion syndrome
true
monosomy 18q
2015-09-28T17:05:53Z
ORDO:1600
DOID:0060407
ICD10CM:Q93.5
18q- syndrome
elvira
disease_ontology
OMIM:601808
This chromosomal abnormality is associated with intellectual impairment (moderate-severe), behavioral disorder, epilepsy and dysmorphic features including microcephaly, turricephaly, deep-set-eyes, broad nasal bridge, high arched or cleft palate, carp shaped mouth and small hands and feet. Cardiac defects may occur. Neuroimaging shows abnormal myelination, and may show cerebellar hypoplasia. Seizures are of early onset and seizures with focal autonomic seizures features are common (which may result in cardiac arrhythmia and apnoea). It is notable that this chromosome deletion may include the TCF4 gene, which is mutated in Pitt Hopkins Syndrome.
MESH:C536580
deletion 18q
chromosomal anomaly