neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
MONDO:0030375Mondo
Findings
No curated finding names neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
51 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.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 7 of 7 reported patients
- Cholestatic liver diseaseHPOHP:0002611
- 7 of 7 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 9 of 9 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 7 of 7 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 7 of 7 reported patients
- Expressive language delayHPOHP:0002474
- 7 of 7 reported patients
- Full cheeksHPOHP:0000293
- 2 of 2 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 7 of 7 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 2 of 2 reported patients
Show the remaining 39
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Macular atrophyHPOHP:0007401
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 1 of 1 reported patient
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.
- YARS1HGNC:12840
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
- Also called
- IMNEPD2