Disease #01981 (OMOD (omodysplasia (OMOD)))

Official abbreviation OMOD
Name omodysplasia (OMOD)
OMIM ID -
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 2 genes FZD2, GPC6
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00311882 FamPat1 PubMed: Saal 2015 2-generation family, affected mother/daughter F - United States - - 0 - - 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 FZD2 FZD2 1 2 Johan den Dunnen
00311883 FamPat2 PubMed: Saal 2015 daughter F - United States - - 0 - - 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 FZD2 FZD2 1 1 Johan den Dunnen
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