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MIRAGE
hypomyelinating leukodystrophy 5

Summary
Synonym
  • HLD5
  • hypomyelination-congenital cataract syndrome
Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
Super Class
autosomal recessive disease hypomyelinating leukodystrophy
Disease Ontology
DOID:0060793
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84668 HYCC1 hyccin PI4KA lipid kinase complex subunit 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9BYI3 Hyccin
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025