Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Lissencephaly, X-linked 1
Synonyms

LISX1
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://identifiers.org/omim/300067
altLabel

LISX1
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.
id

OMIM:300067
notation

OMIM:300067
prefLabel

Lissencephaly, X-linked 1
subClassOf

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