developmental delay with variable neurologic and brain abnormalities
MONDO:0859218Mondo
Findings
No curated finding names developmental delay with variable neurologic and brain 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
32 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
- 10 of 10 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 10 reported patients
- Motor delayHPOHP:0001270
- 9 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 10 reported patients
- Thin corpus callosumHPOHP:0033725
- 6 of 9 reported patients
- SeizureHPOHP:0001250
- 5 of 10 reported patients
- SpasticityHPOHP:0001257
- 3 of 10 reported patients
- MacrotiaHPOHP:0000400
- 2 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 10 reported patients
- Alternating esotropiaHPOHP:0001137
- 1 of 10 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 10 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 10 reported patients
Show the remaining 20
- AstigmatismHPOHP:0000483
- 1 of 10 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 10 reported patients
- CataractHPOHP:0000518
- 1 of 10 reported patients
- Cubitus valgusHPOHP:0002967
- 1 of 10 reported patients
- Down-sloping shoulderHPOHP:0200021
- 1 of 10 reported patients
- GlaucomaHPOHP:0000501
- 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.
- LMBRD2HGNC:25287
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Limited · G2P · Autosomal dominant · 2021
Where it sits
- A kind of