Leukodystrophy, Hypomyelinating, 16 (HLD16)

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OMIM 57 617964 MedGen 42 CN244907

MeSH 44 D020279 SNOMED-CT via HPO 69 563001 162294008 229721007 29164008 62415009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 8011004 41581000 56731001 32566006 86854008 25136009 204043002 30721006 192781003 14648003 more

OMIM : ⁵⁷ Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (617964)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 16, is also known as hld16. An important gene associated with Leukodystrophy, Hypomyelinating, 16 is TMEM106B (Transmembrane Protein 106B). Affiliated tissues include brain and eye, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : ⁷⁵ Leukodystrophy, hypomyelinating, 16: An autosomal dominant disorder characterized by hypomyelination, leukodystrophy, and thin corpus callosum observed on brain imaging. Clinical features include hypotonia, nystagmus, and mildly delayed motor development with onset in infancy, ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties.

Clinical features from OMIM:

617964

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