Preferred Label : Lissencephaly, X-linked, 2;
Symbol : LISX2;
CISMeF acronym : LISX2; XLAG; XLISG;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Lissencephaly, X-linked, with ambiguous genitalia; XLAG; XLISG;
Included titles and symbols : Hydranencephaly and abnormal genitalia;
Description : X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural
brain anomalies, early-onset intractable seizures, severe psychomotor retardation,
and ambiguous genitalia. Males are severely affected and often die within the first
days or months of life, whereas females may be unaffected or have a milder phenotype
(Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused
by mutation in the ARX gene comprising a nearly continuous series of developmental
disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004)
to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510)
and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al.,
2008). For a general phenotypic description and a discussion of genetic heterogeneity
of lissencephaly, see LIS1 (607432).;
Inheritance : X-linked;
Molecular basis : Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, 300382.0005);
Prefixed ID : #300215;
Origin ID : 300215;
UMLS CUI : C1846171;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)