All individuals with variants in gene FZD2

11 entries on 1 page. Showing entries 1 - 11.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00311855 5449 PubMed: White 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Kosovo - - - - - RRS height (45th); no macrocephaly, broad forehead, high forehead, midface hypoplasia, hypertelorism, mild long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, no bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly 5th fingers; short low implanted thumbs; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311856 BAB8705 PubMed: White 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - RRS height (-2.9 SD); relative, broad forehead, high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; micromelia; brachydactyly; clinodactyly 5th fingers; camptodactyly 4th fingers; broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311857 BAB7987 PubMed: White 2018 2-generation family, affected mother/daughter; daughter F - - - - - - - RRS height (-2.25 SD); no macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies 1 2 Johan den Dunnen
00311858 BAB7988 PubMed: White 2018 affected mother of BAB7987 F - - - - - - - RRS height (-1.7 SD); macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311859 BAB8596 PubMed: White 2018 2-generation family, 4 affected (2F, 2M) M - - - - - - - RRS height (-3.5 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia, improved with age; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 2 4 Johan den Dunnen
00311860 BAB8594 PubMed: White 2018 affected mother of BAB8596 F - - - - - - - RRS height (-2.1 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311861 BAB9254 PubMed: White 2018 sister of BAB8596 F - - - - - - - ? height (-4.5 SD); no macrocephaly, no broad forehead, no high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, no anteverted nares, no wide nasal bridge, no thin vermillion border, no gingival hyperplasia, no bilobed tongue, no dental anomalies, no low set ears; micromelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311862 BAB9255 PubMed: White 2018 brother of BAB8596 M - - - - - - - ? height (-2.6 SD); no macrocephaly, no broad forehead, no high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, no anteverted nares, no wide nasal bridge, no thin vermillion border, no gingival hyperplasia, no bilobed tongue, no dental anomalies, no low set ears; micromelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies 1 1 Johan den Dunnen
00311882 FamPat1 PubMed: Saal 2015 2-generation family, affected mother/daughter F - United States - - - - - OMOD see paper; ..., height 10th pecentile; short humeri; radial dislocation, limitation of movement; no vertebral anomalies; round face; frontal bossing, prominent forehead; no  small nose with broad tip; long philtrum; flat nasal bridge; cleft lip and cleft palate; hypoplastic genitalia/other genital anomalies; uterine anomalies 1 2 Johan den Dunnen
00311883 FamPat2 PubMed: Saal 2015 daughter F - United States - - - - - OMOD see paper; ..., height <5th pecentile; short humeri; radial dislocation, limitation of movement; short ulnae; short first metacarpal; femoral anomalies, proximal; short fibulae; vertebral anomalies; round face; frontal bossing, prominent forehead; small nose with broad tip; long philtrum; flat nasal bridge; no  cleft lip and cleft palate; no ypoplastic genitalia/other genital anomalies 1 1 Johan den Dunnen
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