Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder

Alternative Names

CHDFIDD

Associated Genes

Cyclin-Dependent Kinase 13

Back to search Result

WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

OMIM Number

617360

Mode of Inheritance

Autosomal dominant

Gene Map Locus

7p14.1

Description

CDK13-related disorder is characterized in all individuals by developmental delay/intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures. [From Gene Reviews]

Epidemiology in the Arab World

View Map

United Arab Emirates

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
617360.1	United Arab Emirates	Female			Microcephaly; Strabismus; Visual impairm... Microcephaly; Strabismus; Visual impairment; Delayed speech and language development; Intellectual disability; Severe muscular hypotonia; Global developmental delay; Motor delay; Failure to thrive; Abnormal cerebral white matter morphology; Cerebral hypomyelination	NM_003718.5:c.1499C>T	Heterozygous	Autosomal, Dominant	Trinh et al. 2019	Patient had dual dia...
617360.2	United Arab Emirates	Male			Global developmental delay Global developmental delay	NM_003718.5:c.2134G>A	Heterozygous	Autosomal, Dominant	Trinh et al. 2019