lissencephaly 8

Summary
Synonym
  • LIS8
Definition
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
Super Class
autosomal recessive disease lissencephaly
External Links
Disease Ontology
DOID:0112233
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
237500 Tmtc3 transmembrane and tetratricopeptide repeat containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
314785 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
37401 Tmtc3 Transmembrane O-mannosyltransferase targeting cadherins 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
100150181 tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100145573 tmtc3 transmembrane and tetratricopeptide repeat containing 3 Xenopus tropicalis (tropical clawed frog)
108711051 tmtc3.L transmembrane and tetratricopeptide repeat containing 3 L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0002119 Ventriculomegaly
HP:0001249 Intellectual disability
HP:0006951 Retrocerebellar cyst
HP:0000568 Microphthalmia
HP:0003202 Skeletal muscle atrophy
HP:0012434 Delayed early-childhood social milestone development
HP:0001344 Absent speech
HP:0000252 Microcephaly
HP:0002079 Hypoplasia of the corpus callosum
HP:0003593 Infantile onset
Displaying 1 entry
Gene ID Gene Symbol Description
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3

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Last updated: August 19, 2024