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1.

SIN3A-related intellectual disability syndrome due to a point mutation

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021). [from OMIM]

MedGen UID:
934771
Concept ID:
C4310804
Disease or Syndrome
2.

Bilateral polymicrogyria

Polymicrogyria that affects all or some of both cerebral hemispheres. [from HPO]

MedGen UID:
1647593
Concept ID:
C4707565
Congenital Abnormality

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