amelocerebrohypohidrotic syndrome
Findings
No curated finding names amelocerebrohypohidrotic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
Definition from the Mondo Disease Ontology (MONDO:0009185), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 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 ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Abnormality of dental colorHPOHP:0011073
- Very frequent (80% to 99% of cases)
- Amelogenesis imperfectaHPOHP:0000705
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Yellow-brown discoloration of the teethHPOHP:0006286
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Frequent (30% to 79% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 4 reported patients
Genes
2 genes
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.
- ROGDIHGNC:29478
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC13A5HGNC:23089
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: amelocerebrohypohidrotic syndrome
- Also called
- epilepsy-dementia-amelogenesis imperfecta syndromeKohlschutter-Tonz syndrome