Small bowel intestinal atresia, particularly apple peel intestinal atresia. Microcephaly. Developmental delay and/or intellectual disability of varying degree. Minor facial anomalies. Ocular anomalies including microphthalmia and anterior segment anomalies. Genitourinary anomalies including hypoplastic and cystic-dysplastic kidneys, hydroureteronephrosis, cryptorchidism. Brain anomalies including corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, cerebral and cerebellar hypoplasia. Congenital heart disease. Cleft palate. Polydactyly, accessory spleen.
CENPF