X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Findings
No curated finding names X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
Definition from the Mondo Disease Ontology (MONDO:0010485), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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.
- Anteverted earsHPOHP:0040080
- 1 of 1 reported patient
- Chorioretinal colobomaHPOHP:0000567
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Iris colobomaHPOHP:0000612
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.
- HMGB3HGNC:5004
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · X-linked · 2025
Where it sits
Other names
2 names
Resolves to: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
- Also called
- microphthalmia, syndromic type 13X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome