congenital muscular dystrophy with cataracts and intellectual disability
Findings
No curated finding names congenital muscular dystrophy with cataracts and intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0024607), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 12 of 12 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 10 of 10 reported patients
- HypotoniaHPOHP:0001252
- 11 of 12 reported patients
- Motor delayHPOHP:0001270
- 11 of 12 reported patients
- KyphosisHPOHP:0002808
- 2 of 12 reported patients
- Spinal rigidityHPOHP:0003306
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- INPP5KHGNC:33882
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025