CEROID LIPOFUSCINOSIS, NEURONAL, 6

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 6?

Accepted Answer

rare
autosomal recessive
mutation in the CLN6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN6-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601780

Question 4

Which enzymes are involved?

Accepted Answer

Ceroid-lipofuscinosis neuronal protein 6

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 6
Synonym	CLN6; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED
OMIM	601780 OMIM = Online Mendelian Inheritance of Men
Orphanet	228363
Protein (UniProt)	Ceroid-lipofuscinosis neuronal protein 6
Gene locus	15q23
ICD	E75.4
Summary	rare autosomal recessive mutation in the CLN6 gene
Laboratory findings
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental regression dystonia EEG abnormalities [-] Electron microscopy [-] epilepsy MRI, brain, white matter abnormalities [-] myoclonus neurological deterioration onset, childhood optic atrophy retinal or macular degeneration retinopathy seizures SEP (sensory evoked potentials), abnormal speech development, delayed, abnormal VEP (visual evoked potentials), abnormal white matter changes, abnormalities