Definition

An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death.

[1]

Synonyms

DONSON-related microcephaly-short stature-limb abnormalities spectrum

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

Gene	Species	Association	Disease Qualifier	Disease	Evidence	Based On	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Alleles

Allele	Species	Association	Disease Qualifier	Disease	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

microcephaly, short stature, and limb abnormalities

microcephaly, short stature, and limb abnormalities

Associated Genes

Associated Alleles

Associated Models