intellectual disability, autosomal recessive 65
MONDO:0020850Mondo
Findings
No curated finding names intellectual disability, autosomal recessive 65 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
24 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.
- Feeding difficultiesHPOHP:0011968
- 2 of 3 reported patients · Neonatal onset
- Moderate global developmental delayHPOHP:0011343
- 2 of 3 reported patients
- MyopiaHPOHP:0000545
- 2 of 3 reported patients
- Square faceHPOHP:0000321
- 2 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 3 reported patients
- AstigmatismHPOHP:0000483
- 1 of 3 reported patients
- Contracture of the proximal interphalangeal joint of the 4th fingerHPOHP:0009276
- 1 of 3 reported patients
- Contracture of the proximal interphalangeal joint of the 5th fingerHPOHP:0009185
- 1 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 3 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 3 reported patients
Show the remaining 12
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients
- Inguinal herniaHPOHP:0000023
- 1 of 3 reported patients
- Low hanging columellaHPOHP:0009765
- 1 of 3 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 1 of 3 reported patients
- Prominent nasal bridgeHPOHP:0000426
- 1 of 3 reported patients
- PtosisHPOHP:0000508
- 1 of 3 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.
- KDM5BHGNC:18039
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: intellectual disability, autosomal recessive 65
- Also called
- mental retardation, autosomal recessive 65MRT65