Severe microcephalyGene: PUF60
Over 15 affected individuals reported. Short stature and dev delay are consistent features. 5/12 in the largest case series had microcephaly in relation to stature (Z-scores −2.48, −4.22, −2.09, −2.99, −2.53 respectively).
Sources: Expert list
Created: 3 Sep 2020, 3:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Verheij syndrome, MIM# 615583
Variants in this GENE are reported as part of current diagnostic practice
gene: PUF60 was added gene: PUF60 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 28327570 Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM# 615583 Review for gene: PUF60 was set to GREEN gene: PUF60 was marked as current diagnostic