Table I.
Periventricular heterotopia | FLNA-associated XLID |
Lissencephaly |
ARX-associated XLID CK syndrome X-linked lissencephaly |
Hydranencephaly |
ARX-associated XLID Hydrocephaly-MASA spectrum |
Retinal lacunae | Aicardi syndrome |
Cleft lip | XLID cleft lip/cleft palate Telecanthus-hypospadias |
Tracheoesophageal fistula/esophageal atresia | VACTERL-hydrocephaly |
Imperforate anus | VACTERL-hydrocephaly Opitz FG syndrome |
Renal agenesis | Lenz microphthalmia |
Cystic kidneys | Oral-Facial-Digital syndrome I Simpson-Golabi-Behmel |
Ambiguous genitalia |
ARX-associated XLID ATRX-associated XLID |
Radial aplasia | VACTERL-hydrocephaly |
Radioulnar synostosis | Guiffre-Tsukahara |
Vertebral segmentation | VACTERL-hydrocephaly Christian syndrome |