| Phenotype details |
Delayed speech and language development, Speech articulation difficulties, Failure to thrive, Intellectual disability, borderline, Oromotor apraxia; Severe speech development disorder including oral motor and articulation, brother also affected (not analyzed), EEG (A.v. ESES) and MRI normal, IQ of 75 (KABC-II test), visual perception 63, PR < 1 (FEW-2), dystrophy; |