Seckel syndrome 2

info · Syndrome

A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.

Signs and symptoms

Basal ganglia calcification
Short stature
Microglossia
Microdontia
Small for gestational age
Primary microcephaly
Cerebellar calcifications
Microphthalmia
Abnormally high-pitched voice
Growth delay

Also known as: SCKL2; Seckel-type dwarfism 2; microcephalic primordial dwarfism 2