<unk>  (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum. The<unk>  was first described in 2019 by Daniel<unk>  and Prof. Ohad<unk>  at the Morris Kahn Laboratory for Human Genetics, Ben Gurion University of the Negev.
Halperin-Birk syndrome
Birk-Barel syndrome
Hurler syndrome
Kindler syndrome
Hecht Scott syndrome
ZTTK syndrome
GRACILE syndrome
GAPO syndrome