CDK13-related disorder
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures.
Wikipage redirect
Link from a Wikipage to another Wikipage
primaryTopic
CDK13-related disorder
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures.
has abstract
CDK13-related disorder, also k ...... established the name CHDFIDD.
@en
geneReviewsId
geneReviewsName
CDK13-Related Disorder
@en
medical cause
OMIM id
Wikipage page ID
62,480,334
page length (characters) of wiki page
Wikipage revision ID
1,025,592,383
Link from a Wikipage to another Wikipage
caption
Typical facial appearance of an individual with CDK13-related disorder
@en
causes
Genetic
@en
diagnosis
Genetic testing
@en
frequency
Not yet known. At least 44 individuals diagnosed .
@en
GeneReviewsName
CDK13-Related Disorder
@en
GeneReviewsNBK
NBK536784
@en
image size
OMIM
prognosis
Not yet certain. A few patients in mid-adulthood identified.
@en
symptoms
Congenital heart defects, inte ...... , gastrointestinal dysmotility
@en
synonyms
Congenital heart defects, dysm ...... sorder , CDK13-related CHDFIDD
@en
treatment
Gastroprokinetic medication, gastrostomy, speech therapy, assistive communication devices
@en
wikiPageUsesTemplate
subject
comment
CDK13-related disorder, also k ...... ies, hearing loss or seizures.
@en
label
CDK13-related disorder
@en