TABLE 1.
Phenotypic features of the index patient and his female relatives and of known AMMECR1 point mutation carriers in literature
| Tables | (Male) index | Mother | Maternal aunt | Grandmother | Basel‐Vanagaite et al. proband | Basel‐Vanagaite et al. maternal uncle | Andreoletti et al. proband II(1) | Andreoletti et al. proband II(2) | Andreoletti et al. proband I(2) | Moysés‐Oliveira P2 | Moysés‐Oliveira P3 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| c.1333C>T, p.(Arg45*) | c.530G>A, p.(Gly177Asp) | c.502C>T, p.(Arg168*) | c.429T>A, p.(Tyr143*) | ||||||||
| Gender | M | F | F | F | M | M | M | M | F | M | M |
| Talipes | x | x | |||||||||
| Fetal pericardial effusion | x | x | |||||||||
| Tricuspid insufficiency | x | ||||||||||
| Fetal nuchal edema | x | x | |||||||||
| Cleft palate | x | x | x | x | |||||||
| Hearing loss | x | x | x | x | x | x | x | ||||
| Congenital hip dysplasia | x | x | |||||||||
Abbreviations: NM, not mentioned; x, present.