Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 19-05-2015

Symbol	CCDDL
Location	16q23.2
Name	congenital cataracts, sensorineural deafness, Down -like facial appearance
Corresponding gene	MAF
Other symbol(s)	Aymé-Gripp syndrome
Main clinical features	congenital cataracts, sensorineural deafness, distinctive facial appearance, skeletal changes, postnatal short stature, and mental retardation, seizures, brachycephaly appearance of the eyes was somewhat suggestive of Down syndrome with philtrum long, broad, and smooth and the face generally flat, reduced growth (final height −2.25 to −4 SD)
Genetic determination	autosomal recessive
Function/system disorder	ear
	eye
	mental retardation
Type	disease

Remark(s)

mutations affecting residues within the GSK3 recognition motif of MAF (PMID: 25865493))