| VICI SYNDROME; VICIS (EPG5) | |
| IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM | |
|
242840
OMIM = Online Mendelian Inheritance of Men | |
|
1493 | |
| Ectopic P granules protein 5 homolog | |
rare (78 patients) autosomal recessive mutation in the EPG5 gene | |
| Laboratory findings | Hemoglobine normal/dec (blood) Immunglobulin IgG dec (serum) |
| Symptoms | albinism cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic cataract cleft lip cleft palate coarse facial features corpus callosum, agenesis/hypoplasia defect of thymus gland dysmorphism early death failure to thrive growth retardation, poor growth hearing defect, deafness heart failure, cardiac failure hepatomegaly (large liver) hypertelorism hypopigmentation hypospadia hypotonia infections (respiratory tract/system) microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myopathy nystagmus onset, childhood onset, fetus onset, infancy onset, neonatal optic atrophy psychomotor retardation renal dysfunction, renal defects renal tubular acidosis seizures |