linear skin defects with multiple congenital anomalies 2
Findings
No curated finding names linear skin defects with multiple congenital anomalies 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
Definition from the Mondo Disease Ontology (MONDO:0010474), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Aplasia cutis congenitaHPOHP:0001057
- 4 of 4 reported patients
- Asymmetric, linear skin defectsHPOHP:0007398
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 4 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 4 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
- Congenital diaphragmatic herniaHPO
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.
- COX7BHGNC:2291
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
Where it sits
Other names
4 names
Resolves to: linear skin defects with multiple congenital anomalies 2
- Also called
- COX7B microphthalmia with linear skin defects syndromelinear skin defects with multiple congenital anomalies 2, X-linked dominantlinear skin defects with multiple congenital anomalies type 2microphthalmia with linear skin defects syndrome caused by mutation in COX7B