mucopolysaccharidosis type 3D
Findings
No curated finding names mucopolysaccharidosis type 3D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
Definition from the Mondo Disease Ontology (MONDO:0009658), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
55 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.
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Facial hirsutismHPOHP:0009937
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Heparan sulfate excretion in urineHPOHP:0002159
- 4 of 4 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
Show the remaining 43
- DroolingHPOHP:0002307
- 2 of 3 reported patients
- DysphagiaHPOHP:0002015
- 2 of 3 reported patients
- Elbow flexion contractureHPOHP:0002987
- 2 of 3 reported patients
- HyperactivityHPOHP:0000752
- 2 of 3 reported patients
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
- Prominent foreheadHPOHP:0011220
- 2 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.
- GNSHGNC:4422
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: mucopolysaccharidosis type 3D
- Also called
- glucosamine N-acetyl-6-sulfatase deficiencyGNS deficiencyMPS III DMPS3DMPSIIIDmucopolysaccharidosis type IIIDSanfilippo DSanfilippo syndrome DSanfilippo syndrome type D