global developmental delay with speech and behavioral abnormalities
MONDO:0030995Mondo
Findings
No curated finding names global developmental delay with speech 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
HPO, annotations 2026-09-02
Features
24 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.
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- Intellectual disabilityHPOHP:0001249
- 17 of 17 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 16 of 17 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 14 of 17 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 12 of 17 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 11 of 17 reported patients
- HypotoniaHPOHP:0001252
- 10 of 17 reported patients
- Autistic behaviorHPOHP:0000729
- 8 of 17 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 17 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 17 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 17 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 5 of 17 reported patients
Show the remaining 12
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 17 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 17 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 17 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 17 reported patients
- Triangular faceHPOHP:0000325
- 3 of 17 reported patients
- Inguinal herniaHPOHP:0000023
- 2 of 17 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.
- TNRC6BHGNC:29190
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: global developmental delay with speech and behavioral abnormalities
- Also called
- GDSBA