mucolipidosis type III, alpha/beta
Findings
No curated finding names mucolipidosis type III, alpha/beta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.
Definition from the Mondo Disease Ontology (MONDO:0018931), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
90 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.
- C1-C2 subluxationHPOHP:0003320
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Claw hand deformityHPOHP:0034337
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Constrictive median neuropathyHPOHP:0012185
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Deficiency of N-acetylglucosamine-1-phosphotransferaseHPOHP:0003264
- 1 of 1 reported patient
Show the remaining 78
- Increased iduronate sulfatase levelHPOHP:0003538
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- Limitation of joint mobilityHPOHP:0001376
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Lumbar hemivertebraeHPOHP:0008439
- 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.
- GNPTABHGNC:29670
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: mucolipidosis type III, alpha/beta
- Also called
- ML 3 alpha/betaML III alpha/betaMLIIImucolipidosis type 3 alpha/betamucolipidosis type IIIPseudo Hurler Polydystrophypseudo-Hurler polydystrophy