micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
MONDO:0014892Mondo
Findings
No curated finding names micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 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 · Childhood onset
HPO, annotations 2026-09-02
Features
96 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.
- Delayed speech and language developmentHPOHP:0000750
- 14 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 19 of 19 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Recurrent infectionsHPOHP:0002719
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Poor speechHPOHP:0002465
- Very frequent (80% to 99% of cases)
- Dental crowdingHPOHP:0000678
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- 3 of 4 reported patients
- High foreheadHPOHP:0000348
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 13 of 19 reported patients
- DysphagiaHPOHP:0002015
- 2 of 3 reported patients
Show the remaining 84
- Attention deficit hyperactivity disorderHPOHP:0007018
- 11 of 17 reported patients
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- 10 of 16 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 15 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
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.
- TRIOHGNC:12303
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- Also called
- autosomal dominant intellectual disability 44intellectual developmental disorder, autosomal dominant 44, with microcephalyMEBASmercer-Ba syndromeMRD44