Lenz-Majewski hyperostotic dwarfism

Summary
Synonym
  • Lenz-Majewski syndrome
Definition
A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0111507
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9791 PTDSS1 phosphatidylserine synthase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
40281 Pss Phosphatidylserine synthase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 102 in total
HPO ID HPO Term
HP:0000682 Abnormal dental enamel morphology
HP:0000944 Abnormal metaphysis morphology
HP:0001156 Brachydactyly
HP:0001167 Abnormal finger morphology
HP:0001249 Intellectual disability
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001274 Agenesis of corpus callosum
HP:0001328 Specific learning disability
HP:0001331 Absent septum pellucidum
Displaying 1 entry
Gene ID Gene Symbol Description
9791 PTDSS1 phosphatidylserine synthase 1

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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: December 9, 2024