Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Lissencephaly, X-linked 1
Synonyms

Subcortical band heterotopia X-linked

Definitions

(LISX1): A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'.(SBHX): SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

ID

http://purl.obolibrary.org/obo/OMIM_300067

definition

(LISX1): A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'.(SBHX): SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.

has_obo_namespace

cell_cycle_ontology

has_related_synonym

Subcortical band heterotopia X-linked

id

OMIM:300067

label

Lissencephaly, X-linked 1

notation

OMIM:300067

prefLabel

Lissencephaly, X-linked 1

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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