Leukodystrophy, Hypomyelinating, 19, Transient Infantile (HLD19)

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OMIM 56 618688 OMIM Phenotypic Series 56 PS312080

MeSH 43 D020279 MedGen 41 CN263108

OMIM : ⁵⁶ Transient infantile hypomyelinating leukodystrophy-19 (HLD19) is a disorder characterized by onset of transient neurologic abnormalities in early infancy, with resolution within the first or second decades. Affected individuals typically present in the newborn period or in early infancy with nystagmus and motor deficits associated with marked hypomyelination on brain imaging. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. Most patients have normal cognition and can attend regular schools, although some may have persistent neurologic deficits, such as gait ataxia, speech pronunciation defects, and/or mild cognitive impairment (summary by Yan et al., 2019). For a discussion of genetic heterogeneity of HLD, see 312080. (618688)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 19, Transient Infantile, is also known as hld19. An important gene associated with Leukodystrophy, Hypomyelinating, 19, Transient Infantile is TMEM63A (Transmembrane Protein 63A). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : ⁷³ Leukodystrophy, hypomyelinating, 19, transient infantile: An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood.

Clinical features from OMIM:

618688

Search Clinical Trials , NIH Clinical Center for Leukodystrophy, Hypomyelinating, 19, Transient Infantile

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