hypotrichosis-intellectual disability, Lopes type
MONDO:0016414Mondo
Findings
No curated finding names hypotrichosis-intellectual disability, Lopes type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0016414), read 2026-09-29. CC BY 4.0.
Features
4 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.
- 1-5 finger complete cutaneous syndactylyHPOHP:0006088
- Frequent (30% to 79% of cases)
- Advanced eruption of teethHPOHP:0006288
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Sparse hairHPOHP:0008070
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: hypotrichosis-intellectual disability, Lopes type
- Also called
- Lopes-Marques de Faria syndrome