intellectual disability, autosomal dominant 56
MONDO:0030922Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 56 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
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 12 reported patients
- HypotoniaHPOHP:0001252
- 7 of 12 reported patients
- AtaxiaHPOHP:0001251
- 3 of 12 reported patients
- SeizureHPOHP:0001250
- 5 of 23 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 12 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 12 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 12 reported patients
- MyoclonusHPOHP:0001336
- 2 of 12 reported patients
- Oromotor apraxiaHPOHP:0007301
- 2 of 12 reported patients
- Reduced social responsivenessHPOHP:0012760
- 2 of 12 reported patients
- Secondary microcephalyHPOHP:0005484
- 2 of 12 reported patients
Show the remaining 22
- Thin corpus callosumHPOHP:0033725
- 2 of 12 reported patients
- Abnormally slow thought processHPOHP:0031843
- 1 of 12 reported patients
- Absent speechHPOHP:0001344
- 1 of 12 reported patients
- BradykinesiaHPOHP:0002067
- 1 of 12 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 12 reported patients
- ClumsinessHPOHP:0002312
- 1 of 12 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.
- CLTCHGNC:2092
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Illumina · Autosomal dominant · 2018
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: intellectual disability, autosomal dominant 56
- Also called
- CLTC-related disorderCLTC-related IDCLTC-related intellectual disability