Case Report

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome)

Table 1

Characteristic clinical features.

Patient 1 (P.A.)Patient 2 (P.S.)

SexFF
Hypertelorism++++
Downslanting palpebral fissures++
High myopia
Iris coloboma
Short nose++
Posterior angulated ears
Sensorineural deafness
Diaphragmatic hernia
Exomphalos/cord hernia
Malrotation of bowel
Agenesis corpus callosum+ (partial)+ (partial)
Developmental delay++++
Autistic features++++
Seizures++
Sleep disorder++
Proteinuria−/++