Table 2.

EPG5-Related Disorder: Frequency of Select Features

Feature% of Persons
w/Feature
Most common findings
Brain malformationsCorpus callosum agenesis or thinning100%
Thalamic abnormalities20%
Neuronal migration abnormalities or polymicrogyria20%
NeurologicDevelopmental delay / Intellectual disability100%
Neonatal muscular hypotonia70%
Seizures70%
Movement disorders65%
Immunodeficiency95%
Failure to gain weight 190%
(Oculo-)cutaneous hypopigmentation90%
Microcephaly90%
Cardiac
involvement		Cardiomyopathy60%-68%
Congenital heart defects8%-15%
Ophthalmologic
involvement 2		Cataract70%
Retinal abnormalities35%
Optic nerve atrophy30%
Sensorineural hearing loss65%
Anemia, leucopenia, thrombocytopenia50%
Less common findings
Thyroid agenesis or dysplasia10%
Thymic aplasia10%
Pulmonary hypoplasia10%
Renal tubular dysfunction10%

Adapted from Byrne et al [2016a] and Byrne et al [2016b], based on 90 persons with EPG5-related disorder reported to date

1.

Either due to or irrespective of gastrointestinal features

2.

Note that multiple ophthalmologic features may present in a given person (e.g., cataract with retinal abnormalities).

From: EPG5-Related Disorder

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