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GENATLAS PHENOTYPE

last update : 26-08-2016

Symbol	CLAM
Location	7q11.21
HGNC id	20394
Name	pontocerebellar atrophy with progressive microcephaly
Other name(s)	pontocerebellar hypoplasia type 3
Corresponding gene	PCLO
Other symbol(s)	PCH3
Main clinical features	characterized by abnormally small cerebellum and brainstem, with developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)