intellectual disability, autosomal recessive 66
MONDO:0032605Mondo
Findings
No curated finding names intellectual disability, autosomal recessive 66 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- Abnormal facial shapeHPOHP:0001999
- 3 of 10 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 10 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 8 reported patients
- Excessive shynessHPOHP:0100962
- 2 of 8 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 8 reported patients
- EpicanthusHPOHP:0000286
- 2 of 10 reported patients
- HypotoniaHPOHP:0001252
- 2 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.
- FERRY3HGNC:1184
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: intellectual disability, autosomal recessive 66
- Also called
- intellectual developmental disorder, autosomal recessive 66