Table 4 Phenotypes of the patients with Joubert syndrome XX and Oral-facial-digital syndrome (OFDS) XIV
Patients | Sex | Age | Diagnosis | Clinical manifestations |
|---|---|---|---|---|
P13 | M | 3 | Joubert syndrome type XX | Bilateral optic disc coloboma Renal cyst Hypotonia Developmental delay Molar tooth sign on brain MRI Polymicrogyria Failure to thrive |
P14 | M | 15 | OFDS type XIV | Dysmorphism Microcephaly Trigonocephaly Ambiguous genitalia Mental retardation |