FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy with cataracts and intellectual disability ID (Ontology) DOID:0080197 (Human Disease)
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.
Also Known As "congenital muscular dystrophy with cataracts and impaired intellectual development"
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 Genes
 congenital muscular dystrophy with cataracts and intellectual disability       2
 for disease ribbon | congenital muscular dystrophy with cataracts and intellectual disability       2
 model of | congenital muscular dystrophy with cataracts and intellectual disability       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   congenital muscular dystrophy with cataracts and intellectual disability  2 rec.
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Is a congenital muscular dystrophy
autosomal recessive disease
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Synonyms
  • "congenital muscular dystrophy with cataracts and impaired intellectual development" EXACT
Secondary IDs
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MIM:617404