intellectual developmental disorder 59
MONDO:0032795Mondo
Findings
No curated finding names intellectual developmental disorder 59 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
16 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.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Flat faceHPOHP:0012368
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- Long palpebral fissureHPOHP:0000637
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
- Poor speechHPOHP:0002465
- 1 of 1 reported patient
- Sacral dimpleHPOHP:0000960
- 1 of 1 reported patient
- Self-mutilationHPOHP:0000742
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short footHPOHP:0001773
- 1 of 1 reported patient
Show the remaining 4
- Short palmHPOHP:0004279
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 0 of 1 reported patient
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.
- CAMK2GHGNC:1463
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · ClinGen · Autosomal dominant · 2025
- Limited · Illumina · Autosomal dominant · 2019