Arthrogryposis

Gene: KIAA1109

Green List (high evidence)

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures.

More than 10 families reported.

Created: 12 Mar 2022, 1:28 a.m. | Last Modified: 12 Mar 2022, 1:28 a.m.

Panel Version: 0.325

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Alkuraya-Kucinskas syndrome, MIM# 617822

Publications

• 29290337
• 30906834