hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
MONDO:0014131Mondo
Findings
No curated finding names hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
15 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.
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Delayed early-childhood social milestone developmentHPOHP:0012434
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- HypohidrosisHPOHP:0000966
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- Recurrent feverHPOHP:0001954
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Sparse lateral eyebrowHPOHP:0005338
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal isoelectric focusing of serum transferrinHPOHP:0003160
Show the remaining 3
- HepatitisHPOHP:0012115
- Occasional (5% to 29% of cases)
- Mild microcephalyHPOHP:0040196
- Occasional (5% to 29% of cases)
- Secondary microcephalyHPOHP:0005484
- 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.
- COG6HGNC:18621
- Supportive · Orphanet · Autosomal recessive · 2021