[…] characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias
[orpha.net]
[…] posterior hairline Low hairline at back of neck 0002162 Low-set, posteriorly rotated ears 0000368 Microtia Small ears Underdeveloped ears [ more ] 0008551 Reduced bone mineral
[rarediseases.info.nih.gov]
[…] features included short stature, coarse face, deep set eyes, microphthalmia, large ears, gynoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias
[malacards.org]