intellectual disability, autosomal dominant 51
MONDO:0030917Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 51 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
34 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.
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 7 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 7 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 7 reported patients
- Sleep onset insomniaHPOHP:0031354
- 2 of 7 reported patients
- Absent speechHPOHP:0001344
- 1 of 7 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 7 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 7 reported patients
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 1 of 7 reported patients
- EpicanthusHPOHP:0000286
- 1 of 7 reported patients
Show the remaining 22
- Failure to thriveHPOHP:0001508
- 1 of 7 reported patients
- Febrile seizure outside the age of 3 months to 6 yearsHPOHP:0032895
- 1 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 7 reported patients
- Fixated interestsHPOHP:4000070
- 1 of 7 reported patients
- High foreheadHPOHP:0000348
- 1 of 7 reported patients
- Long footHPOHP:0001833
- 1 of 7 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.
- KMT5BHGNC:24283
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025