microcephaly and chorioretinopathy 1
Findings
No curated finding names microcephaly and chorioretinopathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Definition from the Mondo Disease Ontology (MONDO:0009624), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Frequent (30% to 79% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Show the remaining 11
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Genes
3 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.
- TUBGCP6HGNC:18127
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- PLK4HGNC:11397
- Supportive · Orphanet · Autosomal recessive · 2021
- TUBGCP4HGNC:16691
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: microcephaly and chorioretinopathy 1
- Also called
- autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndromemicrocephaly and chorioretinopathy caused by mutation in TUBGCP6microcephaly and chorioretinopathy type 1microcephaly and chorioretinopathy, autosomal recessive, type 1Pseudotoxoplasmosis syndromeTUBGCP6 microcephaly and chorioretinopathy