BARAITSER-WINTER SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: BRWS2
Number of Symptoms 25
OrphanetNr:
OMIM Id: 614583
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000278) Retrognathia rare [HPO:skoehler] 100 / 7739
2
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
3
 (HPO:0000343) Long philtrum 262 / 7739
4
 (HPO:0000465) Webbed neck rare [HPO:skoehler] 81 / 7739
5
 (HPO:0000307) Pointed chin 45 / 7739
6
 (HPO:0000637) Long palpebral fissure 21 / 7739
7
 (HPO:0000243) Trigonocephaly 7/7 [HPO:probinson] 40 / 7739
8
 (HPO:0000154) Wide mouth 137 / 7739
9
 (HPO:0005484) Postnatal microcephaly 4/7 [HPO:probinson] 32 / 7739
10
 (HPO:0000202) Oral cleft rare [HPO:skoehler] 120 / 7739
11
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
12
 (HPO:0000316) Hypertelorism 7/8 [HPO:probinson] 644 / 7739
13
 (HPO:0002553) Highly arched eyebrow 7/7 [HPO:probinson] 92 / 7739
14
 (HPO:0000470) Short neck rare [HPO:skoehler] 345 / 7739
15
 (HPO:0000508) Ptosis 8/8 [HPO:probinson] 459 / 7739
16
 (HPO:0000589) Coloboma 5/7 [HPO:probinson] 47 / 7739
17
 (HPO:0000365) Hearing impairment 5/6 [HPO:probinson] 539 / 7739
18
 (HPO:0000377) Abnormality of the pinna 111 / 7739
19
 (HPO:0001249) Intellectual disability 5/5 [HPO:probinson] 1089 / 7739
20
 (HPO:0001250) Seizures 7/8 [HPO:probinson] 1245 / 7739
21
 (HPO:0004322) Short stature 3/7 [HPO:probinson] 1232 / 7739
22
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
23
 (HPO:0001339) Lissencephaly 7/7 [HPO:probinson] 30 / 7739
24
 (HPO:0000006) Autosomal dominant inheritance 5/7 [HPO:probinson] 2518 / 7739
25
 (HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Riviere et al. (2012) reported 8 patients with Baraitser-Winter syndrome-2. Three of 7 of those examined had short stature; 4 of 7 had postnatal microcephaly; all 5 patients evaluated had intellectual disability; 5 of 6 had hearing loss; ...
Molecular genetics OMIM Riviere et al. (2012) reported 8 patients with Baraitser-Winter syndrome carrying heterozygous missense mutations in the ACTG1 gene; in 7 patients the mutation was proven to have occurred de novo. One mutation was recurrent in 3 patients, a ...