holoprosencephaly 12 with or without pancreatic agenesis
MONDO:0032787Mondo
Findings
No curated finding names holoprosencephaly 12 with or without pancreatic agenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Neonatal death
HPO, annotations 2026-09-02
Features
18 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.
- Pancreatic aplasiaHPOHP:0100801
- 3 of 3 reported patients
- Absent gallbladderHPOHP:0011467
- 2 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 3 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 2 of 3 reported patients
- Small for gestational ageHPOHP:0001518
- 2 of 3 reported patients
- Absent septum pellucidumHPOHP:0001331
- 1 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 3 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 3 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 3 reported patients
- Growth delayHPOHP:0001510
- 1 of 3 reported patients
- Hitchhiker thumbHPOHP:0001234
- 1 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 3 reported patients
Show the remaining 6
- Hypoplasia of the zygomatic boneHPOHP:0010669
- 1 of 3 reported patients
- Lobar holoprosencephalyHPOHP:0006870
- 1 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 3 reported patients
- Prominent occiputHPOHP:0000269
- 1 of 3 reported patients
- Semilobar holoprosencephalyHPOHP:0002507
- 1 of 3 reported patients
- SeizureHPOHP:0001250
- 0 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CNOT1HGNC:7877
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Limited · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: holoprosencephaly 12 with or without pancreatic agenesis
- Also called
- holoprosencephaly 12, with or without pancreatic agenesis