Disease #05479

Official abbreviation ACG
Name achondrogenesis (ACG)
OMIM ID -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 3 genes COL2A1, SLC26A2, TRIP11
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00183270 ASHG2018-P1041 Lee, ASHG2018 P1041 2-generation family, 1 affected, unaffected parents M no Taiwan - - 0 - - ACG admitted to neonatal intensive care unit due to severe tachypnea, dyspnea, subcostal retraction; physical examination showed body length 38cm (<3 percentile), body weight 2755gm (3-15 percentile), head circumference 36 cm (85-97 percentile), arm span 36 cm, pseudo low-set ears, mid-facial hypoplasia, anteverted nostrils, cleft palate, micrognathia, short neck, narrow chest cavity with bulging anterior chest, prominent abdomen, bilateral simian crease, clinodactyly of bilateral 5th fingers, bilateral clubfoot; radiographs revealed short ribs, short and broad long bones, lack of ossification pine and pelvis COL2A1 COL2A1 1 1 Johan den Dunnen
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