CEROID LIPOFUSCINOSIS, NEURONAL, 7

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 7?

Accepted Answer

rare
autosomal recessive
mutation in the MFSD8 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN7-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610951

Question 4

Which enzymes are involved?

Accepted Answer

Major facilitator superfamily domain-containing protein 8

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 7
Synonym	CLN7;
OMIM	610951 OMIM = Online Mendelian Inheritance of Men
Orphanet	228366
Protein (UniProt)	Major facilitator superfamily domain-containing protein 8
Gene locus	4q28.2
ICD	E75.4
Summary	rare autosomal recessive mutation in the MFSD8 gene
Laboratory findings
Symptoms	ataxia behavior, abnormal or bizarre, confusion blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental regression EEG abnormalities [-] Electron microscopy [-] lethargy, drowsiness, apathy MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] myoclonus onset, childhood optic atrophy retinopathy seizures speech development, delayed, abnormal VEP (visual evoked potentials), abnormal white matter changes, abnormalities