Disease #00024 (WABS (Warsaw breakage syndrome (WABS)), OMIM:613398)

Official abbreviation WABS
Name Warsaw breakage syndrome (WABS)
OMIM ID 613398
Human Phenotype Ontology Project (HPO) HPO
Inheritance Multifactorial
Individuals reported having this disease 22
Phenotype entries for this disease 22
Associated with 1 gene DDX11
Associated tissues -
Disease features cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalitie; cardiac defects; no limb reductions; hearing loss; skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
Remarks -
Date created 2012-08-01 11:27:24 +02:00 (CEST)
Date last edited 2023-08-31 23:30:08 +02:00 (CEST)


Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00000200 FamPat1 PubMed: Capo-Chichi 2013 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; no retrognathia; sloping/small forehead; clinodactily; no bulbous nose; cochlear abnormalities; small nares; short neck; single palmar crease; no syndactyly; no heart abnormality; hypotonia DDX11 DDX11 1 3 Fadi F. Hamdan
00025472 WABS04 PubMed: van Schie 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother F no Netherlands white - - - - WABS no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; bulbous nose; seizures; lung abnormality; diabetes mellitus; hypotelorism DDX11 DDX11 2 1 Najim Ameziane
00025473 WABS03 PubMed: van Schie 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Uruguay - - - - - WABS microcephaly; sensorineural hearing loss; postnatal growth restriction; retrognathia; congenital hypothyroidism; broncho-obstructive episodes DDX11 DDX11 2 1 Najim Ameziane
00025474 WABS05 PubMed: van Schie 2020 2-generation family, affected brother/sister, unaffected heterozygous carrier mother M - Croatia (Hrvatska) white - - - - WABS microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; no small/dysplastic ears; brain abnormalities; congenital hypothyroidism; short neck; single palmar crease; high-arched palate; lung abnormality DDX11 DDX11 2 2 Najim Ameziane
00397931 WABS06 PubMed: van Schie 2020 sister F - Croatia (Hrvatska) white - - - - WABS microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; epicanthus; brain abnormalities; short neck; single palmar crease; high-arched palate DDX11 DDX11 2 1 Najim Ameziane
00397932 FamPat2 PubMed: Capo-Chichi 2013 brother M yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; tetraology of Fallot DDX11 DDX11 1 1 Fadi F. Hamdan
00397933 FamPat3 PubMed: Capo-Chichi 2013 sister F yes Lebanon Lebanon - - - - WABS no family history miscarriages; microcephaly; sensorineural hearing loss; postnatal growth restriction; intellectual disability; sloping/small forehead; no clinodactily; no bulbous nose; small nares; short neck; no syndactyly; no heart abnormality DDX11 DDX11 1 1 Fadi F. Hamdan
00397934 patient PubMed: Bailey 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) - - - - - WABS see paper; ..., family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; congenital hypothyroidism; no seizures; syndactyly; patent ductus arteriosus; feeding problems; multicystic kidney DDX11 DDX11 2 1 Johan den Dunnen
00397936 WABS01 PubMed: van der Lelij 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - WABS see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; no congenital hypothyroidism; syndactyly; ventricular septal defect; high-arched palate DDX11 DDX11 2 1 Johan den Dunnen
00397938 WABS07 PubMed: van Schie 2020 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents M no Netherlands - <0d - - - WABS family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; no small nares; brain abnormalities; pulmonary hypoplasia; kidney dysplasia DDX11 DDX11 2 2 Johan den Dunnen
00397939 WABS08 PubMed: van Schie 2020 fetus M no Netherlands - <0d - - - WABS family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; DDX11 DDX11 2 1 Johan den Dunnen
00397940 FamPat1 PubMed: Eppley 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no United States - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche DDX11 DDX11 2 2 Johan den Dunnen
00397941 FamPat2 PubMed: Eppley 2017 sister F no United States - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; sloping/small forehead; skin abnormalities; clinodactily; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; small thumbs, small fibulae; no seizures; no single palmar crease; no syndactyly; hypotonia; early menarche DDX11 DDX11 2 1 Johan den Dunnen
00397942 Pat1 PubMed: Alkhunazi 2018 - M no Croatia (Hrvatska) - - - - - WABS see paper; ..., family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; small/dysplastic ears; brain abnormalities; seizures; syndactyly; no heart abnormality; no hypotonia DDX11 DDX11 2 1 Johan den Dunnen
00397943 Pat2 PubMed: Alkhunazi 2018 - M yes Pakistan - - - - - WABS see paper; ..., family history malignancy; family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; small nares; small/dysplastic ears; brain abnormalities; syndactyly; patent ductus arteriosus, atrial septal defect; hypotonia; no kidney abnormality; DDX11 DDX11 1 1 Johan den Dunnen
00397944 Pat3 PubMed: Alkhunazi 2018 - F yes Saudi Arabia - - - - - WABS see paper; ..., no family history malignancy; ; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; epicanthus; talipes equino varus; syndactyly; ventricular septal defect; no hypotonia DDX11 DDX11 1 1 Johan den Dunnen
00397945 Pat4 PubMed: Alkhunazi 2018 - M yes Saudi Arabia - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; cochlear abnormalities; brain abnormalities; craniosynostosis; no heart abnormality; no hypotonia; no kidney abnormality DDX11 DDX11 1 1 Johan den Dunnen
00397946 Pat5 PubMed: Alkhunazi 2018 - M yes Egypt - - - - - WABS see paper; ..., no family history malignancy; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; no skin abnormalities; clinodactily; bulbous nose; small nares; small/dysplastic ears; brain abnormalities; no heart abnormality; no hypotonia; no kidney abnormality; DDX11 DDX11 1 1 Johan den Dunnen
00397947 FamPat1 PubMed: Bottega 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; no intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; DDX11 DDX11 2 2 Johan den Dunnen
00397948 FamPat2 PubMed: Bottega 2019 sister F no Italy - - - - - WABS see paper; ..., microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; retrognathia; sloping/small forehead; skin abnormalities; bulbous nose; cochlear abnormalities; epicanthus; small nares; small/dysplastic ears; bilateral shortening first metacarpal bone DDX11 DDX11 2 1 Johan den Dunnen
00397949 Pat1 PubMed: Rabin 2019 - M no United States Jewish - - - - WABS see paper; ..., family history malignancy; no family history miscarriages; microcephaly; sensorineural hearing loss; abnormal placenta; postnatal growth restriction; intellectual disability; no skin abnormalities; clinodactily; bilateral limitation extension elbow; congenital hypothyroidism; seizures; no heart abnormality; high-arched palate, narrow palate; no feeding problems; diabetes mellitus; no kidney abnormality; hypotelorism DDX11 DDX11 1 1 Johan den Dunnen
00397950 Pat2 PubMed: Rabin 2019 - F no United States Jewish - - - - WABS see paper; ..., family history miscarriages; microcephaly; sensorineural hearing loss; prenatal growth restriction; postnatal growth restriction; intellectual disability; skin abnormalities; clinodactily; cochlear abnormalities; brain abnormalities; dislocation elbow; congenital hypothyroidism; seizures; systolic murmur; high-arched palate; feeding problems; no diabetes mellitus DDX11 DDX11 1 1 Johan den Dunnen
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