Conditions / Syndrome
rhizomelic chondrodysplasia punctate type 4
info · Syndrome
A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss o
A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
Signs and symptoms
- Microcephaly
- Developmental regression
- Seizure
- Profound intellectual disability
- Global developmental delay
- Spastic tetraparesis
- Growth delay
- Spasticity
- Long philtrum
- Hypotonia