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. Author manuscript; available in PMC: 2014 Nov 1.
Published in final edited form as: Am J Med Genet A. 2013 Sep 24;161(11):10.1002/ajmg.a.36179. doi: 10.1002/ajmg.a.36179

Table I.

Malformations indicative of specific XLID syndromes

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