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.) |
| Sex | F | F | 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 | −/+ | + |
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