COFS syndrome

rare

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

Identifiers: MONDO:0008926 Orphanet:1466
Part of: DNA repair disease Autosomal recessive disease Syndromic microphthalmia
Also known as: Cerebro Oculo Facio Skeletal Syndrome · cerebro-oculo-facio-skeletal syndrome · cerebrooculofacioskeletal syndrome · COFS · Pena-Shokeir syndrome type 2

Subtypes

All diseases Rare only

Disease	ID	Genes
Cerebrooculofacioskeletal syndrome 1	MONDO:0008955	ERCC6
Cerebrooculofacioskeletal syndrome 2	MONDO:0012553	ERCC2
Cerebrooculofacioskeletal syndrome 3	MONDO:0014696	ERCC5
Cerebrooculofacioskeletal syndrome 4	MONDO:0012554	ERCC1
Xeroderma pigmentosum group G	MONDO:0010216	ERCC5

Rare disease

Projects

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