congenital muscular dystrophy with cataracts and intellectual disability

Term ID

DOID:0080197

Synonyms

Definition

A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/28190459

References

• OMIM:617404

Ontology

Human Disease   ( DOID:0080197 )