Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
Autoszomális recesszív
This condition is caused by changes in both copies of TMEM94, a gene that encodes a magnesium transporter in the endoplasmic reticulum; the reported changes stop the gene working.
Tünetek és jelek
Global developmental delay and intellectual disability are present in all reported individuals. Congenital heart defects are present in nearly all reported individuals, and distinctive facial features are common.
Mit változtat a diagnózis
Heart assessment by echocardiogram, with cardiology follow-up or surgery as needed, alongside developmental, educational and therapy support. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.
Vizsgált gének
Más néven
IDDCDF; TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
