Term Name: joint laxity, short stature, and myopia
Synonyms: JLSM
Definition: A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11.
Ontology: Human Disease [DOID:0070748]   ( DOID:0070748 )

Relationships
is a type of: autosomal recessive disease syndrome