CEROID LIPOFUSCINOSIS, NEURONAL, 11

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 11?

Accepted Answer

rare
autosomal recessive
mutation in the GRN gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN11-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614706

Question 4

Which enzymes are involved?

Accepted Answer

Granulins

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 11
Synonym	CLN11;
OMIM	614706 OMIM = Online Mendelian Inheritance of Men
Orphanet	314629
Protein (UniProt)	Granulins
Gene locus	17q21.31
ICD	E75.4
Summary	rare autosomal recessive mutation in the GRN gene
Laboratory findings
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia EEG abnormalities [-] Electron microscopy [-] MRI, brain, abnormalities [-] onset, adulthood retinal dystrophy seizures