Leukodystrophy, Hypomyelinating, 14 (HLD14)

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OMIM 57 617899 Disease Ontology 12 DOID:0080296 MedGen 42 CN845004

MeSH 44 D020279 SNOMED-CT via HPO 69 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 221360009 397790002 95646004 278849000 418143002 52522001 more

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)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 14, is also known as hld14. An important gene associated with Leukodystrophy, Hypomyelinating, 14 is UFM1 (Ubiquitin Fold Modifier 1). Affiliated tissues include brain, cerebellum and eye, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : ⁷⁵ Leukodystrophy, hypomyelinating, 14: 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.

Clinical features from OMIM:

617899

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