Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 24-01-2015

Symbol	CODAS
Location	19p13.2
Name	cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
Corresponding gene	LONP1
Main clinical features	psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiologic findings of spondyloepiphyseal dysplasia ptosis, cataracts, overfolded ears, grooved nasal tip, dental projections, characteristic skeletal anomalies, omphalocele broad skull and flattened midface, helix hypoplasia (“crumpled” ears), ptosis, grooved nasal tip, anteverted nares, and with advancing age, short stature, scoliosis, genu valgus, and pes valgus
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
	osteo-articular
	eye
Type	disease

Remark(s)