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Intellectual developmental disorder with cardiac defects and dysmorphic facies
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed (Stephen et al., 2018). [from OMIM]
Chromosome 4Q32.1-q32.2 triplication syndrome
Congenital heart defect-round face-developmental delay syndrome
A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. [from SNOMEDCT_US]
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