Case Report
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
Figure 1
Dysmorphic features in the patient, including low set ears, prominent nose, deep-set eyes, and a relatively large mouth, consistent with those reported (MIM#615541) (https://www.omim.org/clinicalSynopsis/615541).