Phenotypes for disease #00024 (WABS (Warsaw breakage syndrome (WABS)), OMIM:613398)

22 entries on 1 page. Showing entries 1 - 22.
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0000021583 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Najim Ameziane 00025472
0000021585 Warsaw breakage syndrome WABS microcephaly; sensorineural hearing loss; postnatal growth restriction; retrognathia; congenital hypothyroidism; broncho-obstructive episodes Familial, autosomal recessive - - - - - Najim Ameziane 00025473
0000021586 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Najim Ameziane 00025474
0000291059 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Najim Ameziane 00397931
0000291060 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00000200
0000291061 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397932
0000291062 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397933
0000291063 Warsaw breakage syndrome 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 Familial, autosomal recessive 13y - - - - Johan den Dunnen 00397934
0000291064 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397936
0000291066 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397938
0000291067 Warsaw breakage syndrome WABS family history miscarriages; aborted fetus, microcephaly; prenatal growth restriction, abnormal placenta; retrognathia; skin abnormalities; bulbous nose; Familial, autosomal recessive - - - - - Johan den Dunnen 00397939
0000291068 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397940
0000291069 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397941
0000291070 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397942
0000291071 Warsaw breakage syndrome 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; Isolated (sporadic) - - - - - Johan den Dunnen 00397943
0000291072 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397944
0000291073 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397945
0000291074 Warsaw breakage syndrome 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; Isolated (sporadic) - - - - - Johan den Dunnen 00397946
0000291075 Warsaw breakage syndrome 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; Familial, autosomal recessive - - - - - Johan den Dunnen 00397947
0000291076 Warsaw breakage syndrome 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 Familial, autosomal recessive - - - - - Johan den Dunnen 00397948
0000291077 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397949
0000291078 Warsaw breakage syndrome 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 Isolated (sporadic) - - - - - Johan den Dunnen 00397950
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