Leukodystrophy, Hypomyelinating, 14; HLD14
OMIM number: 617899
Comments closing date: 10/04/2026
Hypomyelinating leukodystrophy-14 (HLD14) is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, as well as cerebral and cerebellar atrophy.
