| Phenotype details |
dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511) |
