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Table 1 List of genes implicated in X-linked cerebellar dysgenesis.

From: X-linked disorders with cerebellar dysgenesis

SYNDROME GENE CEREBELLAR PHENOTYPE CHROMOSOMAL LOCALIZATION MIM#
Oligophrenin-1 OPHN1 cerebellar hypoplasia (vermis lobules VI-VII) Xq12 300486
CASK CASK cerebellar hypoplasia Xp11.4 300749
Christianson SLC9A6 cerebellar atrophy Xq26 300231
Hoyeraal-Hreidarsson DCK1 global cerebellar hypoplasia Xq28 300240
X-linked sideroblastic anemia/Ataxia ABC7 global cerebellar atrophy Xq13 300240
Oral-facial-digital type I/X-linked Joubert OFD1 vermis hypoplasia/molar tooth sign Xp22 311200
Opitz GBBB MID1 anterior vermis hypoplasia Xp22 300000
FragileX/FXTAS FMR1 posterior vermis hypoplasia/cerebellar atrophy Xq27 300624/300623
Rett MECP2 cerebellar atrophy Xq28 312750
MECP2/Xq28 duplications - Cerebellar atrophy/vermis hypoplasia (DWM spectrum) Xq28 300260/300815
X-linked heterotaxy ZIC3 vermis hypoplasia Xq26 306955
X-linked hydrocephalus L1CAM global or anterior vermis hypoplasia Xq28 307000
Fried AP1S2 mild vermis hypoplasia Xp22 300630
X-linked lissencephaly with abnormal genitalia ARX severe cerebellar hypoplasia Xp21 300004
X-linked Lissencephaly DCX mild cerebellar hypoplasia (vermis) Xq22 300067
Oto-palato-digital type II FLNA mild cerebellar hypoplasia Xq28 300049