mucolipidosis type II
Findings
No curated finding names mucolipidosis type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
Definition from the Mondo Disease Ontology (MONDO:0009650), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
92 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 atrioventricular valve physiologyHPOHP:0031650
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Expressive language delayHPOHP:0002474
- Very frequent (80% to 99% of cases)
- Gingival overgrowthHPOHP:0000212
- 5 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Hoarse voiceHPOHP:0001609
- Very frequent (80% to 99% of cases)
Show the remaining 80
- Umbilical herniaHPOHP:0001537
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 9 reported patients
- Abnormal mitral valve morphologyHPOHP:0001633
- Frequent (30% to 79% of cases)
- Abnormality of the thoracic cavityHPOHP:0045027
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% 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.
- GNPTABHGNC:29670
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: mucolipidosis type II
- Also called
- I Cell DiseaseI-cell diseasemucolipidosis type II alpha/betaN-acetylglucosamine 1-phosphotransferase deficiency