CEROID LIPOFUSCINOSIS, NEURONAL, 14

Question 1

What is  CEROID LIPOFUSCINOSIS, NEURONAL, 14?

Accepted Answer

rare
autosomal recessive
mutation in the KCTD7 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CLN14-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611726

Question 4

Which enzymes are involved?

Accepted Answer

BTB/POZ domain-containing protein KCTD7

Disease	CEROID LIPOFUSCINOSIS, NEURONAL, 14
Synonym	CLN14; EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
OMIM	611726 OMIM = Online Mendelian Inheritance of Men
Orphanet	263516
Protein (UniProt)	BTB/POZ domain-containing protein KCTD7
Gene locus	7q11.21
ICD	G40.3
Summary	rare autosomal recessive mutation in the KCTD7 gene
Laboratory findings
Symptoms	abnormal movement ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy EEG abnormalities [-] Electron microscopy [-] epilepsy hypokinesia mental retardation MRI, brain, abnormalities [-] onset, childhood onset, infancy optic atrophy seizures speech difficulties