mucolipidosis type IV
Findings
No curated finding names mucolipidosis type IV yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal disease characterized by psychomotor delay, progressive visual impairment, and achlorhydria.
Definition from the Mondo Disease Ontology (MONDO:0009653), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Abnormality of mucopolysaccharide metabolismHPOHP:0011020
- Very frequent (80% to 99% of cases)
- Absent speechHPOHP:0001344
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Developmental stagnationHPOHP:0007281
- Very frequent (80% to 99% of cases)
Show the remaining 22
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Occasional (5% to 29% of cases)
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.
- MCOLN1HGNC:13356
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: mucolipidosis type IV
- Also called
- ML 4ML IVML4MLIVMucolipidosis IVmucolipidosis type 4sialolipidosis