pancreatic agenesis-holoprosencephaly syndrome
MONDO:0034142Mondo
Findings
No curated finding names pancreatic agenesis-holoprosencephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
- Absent gallbladderHPOHP:0011467
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Decreased circulating C-peptide concentrationHPOHP:0030795
- Frequent (30% to 79% of cases)
- Decreased circulating lipoprotein lipase concentrationHPOHP:0031209
- Frequent (30% to 79% of cases)
- HoloprosencephalyHPOHP:0001360
- Frequent (30% to 79% of cases)
- HypoamylasemiaHPOHP:0410289
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- Frequent (30% to 79% of cases)
- Pancreatic aplasiaHPOHP:0100801
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Abnormal external nose morphologyHPOHP:0010938
- Occasional (5% to 29% of cases)
Show the remaining 11
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the phalanges of the thumbHPOHP:0009658
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Occasional (5% to 29% of cases)
- HypotelorismHPOHP:0000601
- Occasional (5% to 29% of cases)
- HypoxemiaHPOHP:0012418
- Occasional (5% to 29% of cases)