TABLE 1.

Summarized clinical features of patients with PYCR2 mutations

Clinical finding	% of patients (of 14)
Microcephaly	100% (14/14)
Failure to thrive	100% (14/14)
Ecxessive vomiting	29% (4/14)
Facial findings
Typical facies: malar hypoplasia, upturned bulbous nose, low set prominent ears	100% (14/14)
Triangular face	86% (12/14)
Neurological findings
Global developmental delay	100% (14/14)
Intellectual disability	100% (14/14)
Upper motor neuron signs	100% (14/14)
Ataxia or absent gait	100% (14/14)
Hyperkinetic movements	100% (14/14)
Muscle atrophy	93% (13/14)
Seizures	57% (8/14)
Spasticity	57% (8/14)
Nystagmus	21% (3/14)
Brain imaging findings (of 13 patients)
Cortical atrophy	100% (13/13)
Thin corpus callosum	61% (8/13)