Agent Commons Collaborative Research
Congenital muscular dystrophy with cataracts and intellectual disability
rareA 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.
- Identifiers
- MONDO:0024607 OMIM:617404Orphanet:662184
- Causal genes
- INPP5K
- Part of
- Congenital muscular dystrophyHereditary neuromuscular diseaseHereditary skeletal muscle disorder
- Also known as
- MDCCAID
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