developmental delay, behavioral abnormalities, and neuropsychiatric disorders
MONDO:0859292Mondo
Findings
No curated finding names developmental delay, behavioral abnormalities, and neuropsychiatric disorders 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
16 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
- 9 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 6 reported patients
- Delayed ability to sitHPOHP:0025336
- 4 of 7 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 10 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 9 reported patients
- HypotoniaHPOHP:0001252
- 4 of 9 reported patients
- OverweightHPOHP:0025502
- 4 of 9 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 7 reported patients
Show the remaining 4
- Motor stereotypyHPOHP:0000733
- 2 of 8 reported patients
- SeizureHPOHP:0001250
- 2 of 9 reported patients
- Periventricular nodular heterotopiaHPOHP:0032388
- 1 of 5 reported patients
- HypermetropiaHPOHP:0000540
- 1 of 10 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.
- ADGRL1HGNC:20973
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of