eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0014850|esophageal atresia |
| Sentences | 1 |
| PubMedID- 23879989 | Methods and results: we performed exome sequencing in two familial cases with clinical features overlapping with mfdga and ea, but which were previously assumed to represent distinct entities, a syndrome with esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and intellectual disability in a mother and her two children [ajmg 143a(11):1135-1142, 2007] and a supposedly autosomal recessive oto-facial syndrome with midline malformations in two sisters [ajmg 132(4):398-401, 2005]. |
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