intellectual developmental disorder, autosomal recessive 69
MONDO:0032715Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 69 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
11 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.
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- DroolingHPOHP:0002307
- 3 of 3 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 9 of 9 reported patients
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 9 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
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.
- ZBTB11HGNC:16740
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022