<unk>  has an autosomal recessive pattern of inheritance.<unk>  is caused by a deletion in both copies of the ANTXR1 gene, which encodes Anthrax Toxin Receptor 1. This gene is critical for the creation of actin, and its disruption inhibits proper function of the actin network. As a result, individuals with<unk>  have a buildup of extracellular matrix, and degraded cell adhesions. The alteration can occur in the form of nonsense mutations or mutations which alter the splice sites, and result in alternative RNA splicing, leading to synthesis of a different or modified protein. In humans, the ANTXR1 gene is located on Chromosome 2 and has 22 exons.<unk>  is inherited in an autosomal recessive fashion, and requires both parents to pass on the mutant genotype. Since this mutation is so rare, most confirmed cases have a history of ancestral inbreeding.
GAPO syndrome
ATR-X syndrome
ATR-16 syndrome
GRACILE syndrome
MEDNIK syndrome
Kindler syndrome
Hecht Scott syndrome
ZTTK syndrome