developmental delay, impaired speech, and behavioral abnormalities
MONDO:0859178Mondo
Findings
No curated finding names developmental delay, impaired 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
186 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
- 28 of 28 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 26 of 27 reported patients
- Intellectual disabilityHPOHP:0001249
- 21 of 24 reported patients
- Motor delayHPOHP:0001270
- 23 of 27 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 12 of 22 reported patients
- EEG abnormalityHPOHP:0002353
- 6 of 14 reported patients
- SeizureHPOHP:0001250
- 9 of 24 reported patients
- Emotional labilityHPOHP:0000712
- 8 of 22 reported patients
- HypotoniaHPOHP:0001252
- 8 of 22 reported patients
- Sleep disturbanceHPOHP:0002360
- 7 of 22 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 21 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 21 reported patients
Show the remaining 174
- FallsHPOHP:0002527
- 6 of 29 reported patients
- Hearing impairmentHPOHP:0000365
- 5 of 25 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 21 reported patients
- HypertoniaHPOHP:0001276
- 4 of 22 reported patients
- AnxietyHPOHP:0000739
- 3 of 20 reported patients
- Absent speechHPOHP:0001344
- 4 of 29 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.
- SPTBN1HGNC:11275
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of