THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
MONDO:0013362Mondo
Findings
No curated finding names THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
51 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.
- Carious teethHPOHP:0000670
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- High anterior hairlineHPOHP:0009890
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- High foreheadHPOHP:0000348
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Long noseHPOHP:0003189
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Low hanging columellaHPOHP:0009765
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 4 of 4 reported patients
- Short palpebral fissureHPOHP:0012745
- 4 of 4 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 4 of 4 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
Show the remaining 39
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Mild microcephalyHPOHP:0040196
- Very frequent (80% to 99% of cases)
- Abnormal brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
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.
- THOC6HGNC:28369
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Also called
- BBISBeaulieu-Boycott-Innes syndrome