microphthalmia, Lenz type
Findings
No curated finding names microphthalmia, Lenz type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
Definition from the Mondo Disease Ontology (MONDO:0018924), read 2026-09-29. CC BY 4.0.
Features
42 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.
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th finger
Show the remaining 30
- HydroureterHPOHP:0000072
- Frequent (30% to 79% of cases)
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- MicrocorneaHPOHP:0000482
- Frequent (30% to 79% of cases)
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.
Where it sits
- A kind of
Other names
2 names
Resolves to: microphthalmia, Lenz type
- Also called
- Lenz microphthalmiaLenz Microphthalmia Syndrome