Microcephaly

Gene: PCGF2

I don't know

Key features include developmental delay, impaired intellectual development, impaired growth, and recognizable facial features (frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears). Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. Head size is variable, with some patients showing relative macrocephaly and others showing microcephaly. Over 10 affected individuals reported to date, all variants affect residue p.Pro65

Created: 2 Sep 2020, 11:30 a.m. | Last Modified: 2 Sep 2020, 11:31 a.m.

Panel Version: 0.362

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Turnpenny-Fry syndrome, MIM# 618371

Publications

• 30343942