pili torti-developmental delay-neurological abnormalities syndrome
Findings
No curated finding names pili torti-developmental delay-neurological abnormalities syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Definition from the Mondo Disease Ontology (MONDO:0009871), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
38 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- AlopeciaHPOHP:0001596
- 1 of 1 reported patient
- Clinodactyly of the 4th toeHPOHP:0011918
- 1 of 1 reported patient
- Clinodactyly of the 5th toeHPOHP:0001864
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient · Childhood onset
- DysarthriaHPO
Show the remaining 26
- Increased carrying angleHPOHP:0003102
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Keratosis pilarisHPOHP:0032152
- 1 of 1 reported patient
- Lower limb painHPOHP:0012514
- 1 of 1 reported patient
- MicrodontiaHPOHP:0000691
- 1 of 1 reported patient
- Mitral regurgitationHPOHP:0001653
- 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.
- HEPHL1HGNC:30477
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: pili torti-developmental delay-neurological abnormalities syndrome
- Also called
- abnormal hair, joint laxity, and developmental delay