| Phenotype details |
unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities |
