ZNF335 was first reported in 2012 as a causative gene for microcephaly. Because 
only 1 consanguineous pedigree has ever been reported, the key clinical features 
associated with ZNF335 mutations remain unknown. In this article, we describe 
another family harboring ZNF335 mutations. The female proband was the first 
child of nonconsanguineous Japanese parents. At birth, microcephaly was absent; 
her head circumference was 32.0 cm (-0.6 SD). At 3 months, microcephaly was 
noted, (head circumference, 34.0 cm [-4.6 SD]). Brain MRI showed invisible basal 
ganglia, cerebral atrophy, brainstem hypoplasia, and cerebellar atrophy. At 33 
months, (head circumference, 41.0 cm [-5.1 SD]), she had severe psychomotor 
retardation. After obtaining informed consent from her parents, we performed 
exome sequencing in the proband and identified 1 novel and 1 known mutation in 
ZNF335, namely, c.1399T>C (p.C467R) and c.1505A>G (p.Y502C), respectively. The 
mutations were individually transmitted by her parents, indicating that the 
proband was compound heterozygous for the mutations. Her brain imaging findings, 
including invisible basal ganglia, were similar to those observed in the 
previous case with ZNF335 mutations. We speculate that invisible basal ganglia 
may be the key feature of ZNF335 mutations. For infants presenting with both 
microcephaly and invisible basal ganglia, ZNF335 mutations should be considered 
as a differential diagnosis.