Conditions / Syndrome
rhizomelic chondrodysplasia punctata type 5
info · Syndrome
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
Signs and symptoms
- Short stature
- Seizure
- Severe intellectual disability
- Developmental cataract
- Microcephaly
- Global developmental delay
- Peripheral neuropathy
- Growth delay
- Short humerus
- Skeletal muscle atrophy
Also known as: RCDP5