microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Findings
No curated finding names microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0007918), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
71 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.
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- LymphedemaHPOHP:0001004
- 14 of 27 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 19 of 27 reported patients
- Abnormal hair morphologyHPOHP:0001595
- Frequent (30% to 79% of cases)
Show the remaining 59
- LeukonychiaHPOHP:0001820
- Frequent (30% to 79% of cases)
- MelanonychiaHPOHP:0100644
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Chorioretinal dysplasiaHPOHP:0007731
- 11 of 27 reported patients
- Occasional (5% to 29% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- 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.
- KIF11HGNC:6388
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- Also called
- KIF11-associated disorderlymphedema, microcephaly and chorioretinopathy syndromeMCLMRmicrocephaly with or without chorioretinopathy, lymphedema, or mental retardationmicrocephaly, lymphedema, chorioretinal dysplasia syndromeMLCRDMLCRD syndrome