X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Cilliers type
Definition
X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
Also known as X-linked intellectual disability-microcephaly-testicular failure syndrome — per MONDO