alopecia-mental retardation syndrome 4

Summary
Definition
An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
Super Class
alopecia-mental retardation syndrome autosomal recessive disease
Disease Ontology
DOID:0080950
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4047 LSS lanosterol synthase
The Human Phenotype Ontology
Displaying entries 31 - 35 of 35 in total
HPO ID HPO Term
HP:0001019 Erythroderma
HP:0002079 Hypoplasia of the corpus callosum
HP:0003577 Congenital onset
HP:0003623 Neonatal onset
HP:0008689 Bilateral cryptorchidism
Displaying 1 entry
Gene ID Gene Symbol Description
4047 LSS lanosterol synthase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: February 17, 2025