CEREBROOCULOFACIOSKELETAL SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: COFS2
Number of Symptoms 17
OrphanetNr:
OMIM Id: 610756
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000046) Scrotal hypoplasia 11443545 IBIS 54 / 7739
2
(HPO:0000054) Micropenis 11443545 IBIS 257 / 7739
3
(HPO:0003683) Large beaked nose 11443545 IBIS 4 / 7739
4
(HPO:0000490) Deeply set eye 11443545 IBIS 131 / 7739
5
(HPO:0000347) Micrognathia 11443545 IBIS 426 / 7739
6
(HPO:0000568) Microphthalmia 11443545 IBIS 183 / 7739
7
(HPO:0000252) Microcephaly 11443545 IBIS 832 / 7739
8
(HPO:0000518) Cataract 11443545 IBIS 454 / 7739
9
(HPO:0000365) Hearing impairment 11443545 IBIS 539 / 7739
10
(HPO:0001263) Global developmental delay 11443545 IBIS 853 / 7739
11
(HPO:0001838) Rocker bottom foot 11443545 IBIS 85 / 7739
12
(HPO:0100490) Camptodactyly of finger 11443545 IBIS 212 / 7739
13
(HPO:0002751) Kyphoscoliosis 11443545 IBIS 131 / 7739
14
(HPO:0001511) Intrauterine growth retardation 11443545 IBIS 358 / 7739
15
(HPO:0000992) Cutaneous photosensitivity 11443545 IBIS 75 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(HPO:0003819) Death in childhood 42 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Graham et al. (2001) described a patient with COFS syndrome who was the child of nonconsanguineous Ashkenazi Jewish parents. At birth, examination showed severe intrauterine growth deficiency, microcephaly, deep-set small eyes with bilateral cataracts, prominent beaked nose, micrognathia, ...
Molecular genetics OMIM In a child with COFS, Graham et al. (2001) found compound heterozygosity for 2 mutations in the ERCC2 gene: a novel asp681-to-asn (D681N) mutation (126340.0009), and an arg616-to-trp null mutation (126340.0010), which had previously been observed in patients ...