microphthalmia, syndromic 1
MONDO:0010671Mondo
Findings
No curated finding names microphthalmia, syndromic 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
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.
- AnophthalmiaHPOHP:0000528
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- ClinodactylyHPOHP:0030084
- 4 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients · Male
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Pectus excavatumHPOHP:0000767
- 4 of 4 reported patients
- Prominent fingertip padsHPOHP:0001212
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
- 4 of 4 reported patients
- SyndactylyHPOHP:0001159
- 4 of 4 reported patients
- AnkyloblepharonHPOHP:0009755
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 1 of 4 reported patients
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.
- NAA10HGNC:18704
- Moderate · G2P · X-linked · 2026
- Limited · Ambry Genetics · X-linked · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
13 names
Resolves to: microphthalmia, syndromic 1
- Also called
- ANOP1, formerlyLenz dysplasiaLenz microphthalmia syndromeMAA, formerlyMCOPS1MCOPS4MCOPS4, formerlymicrophthalmia syndromic 4microphthalmia with ankyloblepharon and intellectual disabilitymicrophthalmia with ankyloblepharon and mental retardationmicrophthalmia, syndromic 4, formerlymicrophthalmia, syndromic type 1syndromic microphthalmia type 4