Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-10-2017

Symbol	CCFDN
Location	18q23
Name	congenital cataract, facial dysmorphism neuropathy syndrome
Corresponding gene	CTDP1
Other symbol(s)	MSSM
Main clinical features	demyelinating neuropathy associated with deafness, which was identified at high frequency in Gypsy in Bulgaria including Marinesco-Sjogren syndrome characterized by myoglobinuria and peripheral neuropathy, with congenital cataract, microcornea, mental retardation, prominent midface, thickening of the perioral tissues, forwardly directed anterior dentition, and hypognathism, and at nerve biopsy generalized hypomyelination
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	eye
	neurology
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	a single-nucleotide substitution in an antisense Alu element in intron 6

Remark(s)