Disease #01012 (BRWS2 (Baraitser-Winter syndrome, type 2 (BRWS2)), OMIM:614583)

Official abbreviation BRWS2
Name Baraitser-Winter syndrome, type 2 (BRWS2)
OMIM ID 614583
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ACTG1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00204328 61458 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS2 no short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00287104 LP98-111a2 PubMed: di Donato, 2016 - M - - - - 0 - - BRWS2 - - ACTG1 1 1 Camille Cenni
00419683 194981 - - M no Germany - - 0 - - BRWS2 Global developmental delay ACTG1 ACTG1 1 1 Andreas Laner
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