loading...| Preferred Name | Cerebro-oculo-facio-skeletal syndrome 2 | |
| Synonyms |
COFS2 |
|
| Definitions |
(COFS2) - A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. |
|
| ID |
http://identifiers.org/omim/610756 |
|
| altLabel |
COFS2 |
|
| definition |
(COFS2) - A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. |
|
| id |
OMIM:610756 |
|
| notation |
OMIM:610756 |
|
| prefLabel |
Cerebro-oculo-facio-skeletal syndrome 2 |
|
| subClassOf |