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GENATLAS PHENOTYPE

last update : 05-07-2017

Symbol	HCAHC
Location	12q23.3
Name	cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
Other name(s)	hypomyelinating leukodystrophy-8
Corresponding gene	POLR3B
Other symbol(s)	HLD8
Main clinical features	diffuse hypomyelination, atrophy, or hypoplasia of the cerebellum and corpus callosum, but absence of motor deterioration at MRI, high-intensity areas in the white matter in T2-weighted images, cerebellar atrophy, hypoplastic corpus callosum variable features include oligodontia and/or hypogonadotropic hypogonadism (PMID: 33417887)) also spasticity, ataxia, and neuropathy, variable global developmental delay/intellectual disability, and dystonia EMG/NCSs for the majority of individuals revealed predominantly demyelinating sensory and motor neuropathy
Genetic determination	autosomal recessive
	not applicable
Related entries	including CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM 213002)
Function/system disorder	neurology
Type	disease

Remark(s)

de novo heterozygous variants in POLR3B with consistent clinical features that differ from those associated with previously reported bi-allelic mutations (PMID: 33417887))