- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:19496967)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:8988180)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:19496967)
- Decreased circulating C-peptide concentration (HP:0030795): The concentration of C-peptide in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:19496967)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:12970316)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: PCS. Frequency: 1/1. (PMID:19496967)
- Pancreatic aplasia (HP:0100801): Aplasia of the pancreas. Evidence: PCS. Frequency: 1/1. (PMID:8988180)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 2/2. (PMID:19496967;PMID:12970316)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:8988180)
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:8988180)
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: PCS. Frequency: 1/1. (PMID:12970316)
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: PCS. Frequency: 1/1. (PMID:19496967)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/2. (PMID:19496967;PMID:12970316)
These phenotypes are associated with the disease pancreatic agenesis 1 (OMIM:260370).