| Phenotype | Craniofacial defect: blepharophimosis, dysplastic ears;
Vision: Daltonism and hypermetropia
Genitourinary defect: vesico ureteral reflux grade IV; Extremities: clinodactyly of digit 4 & 5 of hands right and left, membranous syndactyly of hands, digit 2, 3 & 4, brachymetacarpia of the tertiary metacarpus of both hands;
hyperlordosis (no hypotonia);complete left testicular agenesis; global verbal retardation, verbal IQ: 69, performance IQ 46; seizures;hyperactivity/sleep disorder; delayed puberty. |