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Items: 3

1.

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]

MedGen UID:
1675627
Concept ID:
C5193024
Disease or Syndrome
2.

Chromosome 4Q32.1-q32.2 triplication syndrome

MedGen UID:
462207
Concept ID:
C3150857
Disease or Syndrome
3.

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]

MedGen UID:
167108
Concept ID:
C0796162
Disease or Syndrome
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