Leukodystrophy, Hypomyelinating, 14 (HLD14)

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OMIM®: ⁵⁷ Hypomyelinating leukodystrophy-14 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, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617899) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 14, also known as hypomyelinating leukodystrophy 14, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include cerebellum and brain, and related phenotypes are hearing impairment and blindness

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive, severe disorder characterized by atrophy of the basal ganglia and cerebellum, hypomyelination, severe developmental delay, typically without intentional movements and language development, and microcephaly. Almost all patients exhibit spasticity, extrapyramidal movement abnormalities, and severe drug- resistant epilepsy. Disease onset is early in infancy, and most patients die in the first years of life.

Disease Ontology: ¹¹ A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has material basis in homozygous mutation in the UFM1 gene on chromosome 13q13.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 14