intellectual developmental disorder, autosomal dominant 68
MONDO:0030969Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 68 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
- Third trimester onset
HPO, annotations 2026-09-02
Features
39 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.
- Absent earlobeHPOHP:0000387
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Narrow palmHPOHP:0004283
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
- Poor speechHPOHP:0002465
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
Show the remaining 27
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
- Urinary incontinenceHPOHP:0000020
- 1 of 1 reported patient
- Wide mouthHPOHP:0000154
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 7 of 8 reported patients
- Joint contracture of the 5th fingerHPOHP:0009183
- 5 of 9 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.
- KMT2BHGNC:15840
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal dominant 68
- Also called
- mental retardation, autosomal dominant 68MRD68