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 81 - 90 of 102 in total
HPO ID HPO Term
HP:0002120 Cerebral cortical atrophy
HP:0002342 Intellectual disability, moderate
HP:0002937 Hemivertebrae
HP:0002987 Elbow flexion contracture
HP:0003015 Flared metaphysis
HP:0003041 Humeroradial synostosis
HP:0003298 Spina bifida occulta
HP:0003745 Sporadic
HP:0004322 Short stature
HP:0004482 Relative macrocephaly
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