Certain conditions originating in the perinatal period
Autosomal recessive
10p12.2
PACA (pancreatic and cerebellar agenesis ) is characterised by agenesis of cerebellum and pancreas, neonatal diabetes mellitus, and facial dysmorphism. Prenatally, imaging studies have observed intrauterine growth retardation and cerebellar agenesis in infants with PACA. Optic atrophy and optic nerve hypoplasia were also reported in some cases.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609069.1 | Saudi Arabia | Male | Yes | Intrauterine growth retardation; Cerebel... Intrauterine growth retardation; Cerebellar atrophy; Fetal distress; Abnormal facial shape; Bilateral talipes equinovarus; Joint stiffness; Diabetes mellitus; Optic atrophy; Death in infancy  | NM_178161.3:c.437_460del | Homozygous | Autosomal, Recessive | Al-Shammari et al. 2011 |