developmental delay with variable intellectual impairment and behavioral abnormalities
MONDO:0032745Mondo
Findings
No curated finding names developmental delay with variable intellectual impairment and behavioral abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Inverted nipplesHPOHP:0003186
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Tall statureHPOHP:0000098
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
Show the remaining 5
- GynecomastiaHPOHP:0000771
- 1 of 2 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 2 reported patients
- Sandal gapHPOHP:0001852
- 1 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 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.
- TCF20HGNC:11631
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: developmental delay with variable intellectual impairment and behavioral abnormalities
- Also called
- DDVIBATCF20-related disorderTCF20-related syndrome