CLSD is caused by a missense mutation in the 14q13-q21 region of Chromosome 14, where the amino acid phenylalanine is mistranslated and replaced with leucine. Amino acid sequences are encoded in the DNA of each cell in an organism, which is transcribed into RNA and then translated in a ribosome (in this case, the ribosome is attached to the endoplasmic reticulum) which produces a chain of amino acids which makes up a protein. If an amino acid sequence isn't correct, it won't make a functional protein. The missense mutation in CLSD causes an inactivation of the SEC23A protein, which is responsible for closure of the COPII pathway. Chromosome 14, the chromosome affected by CLSD.
Cranio-lenticulo-sutural dysplasia
Dandy–Walker malformation
Regional odontodysplasia
Congenital fourth nerve palsy
Choroid plexus tumor
Craniodiaphyseal dysplasia
Nasal glial heterotopia
Ischiopatellar dysplasia