intellectual developmental disorder 61
MONDO:0032485Mondo
Findings
No curated finding names intellectual developmental disorder 61 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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
- 13 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients · Infantile onset
- Delayed gross motor developmentHPOHP:0002194
- 6 of 13 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 13 reported patients
- Chronic constipationHPOHP:0012450
- 4 of 13 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 13 reported patients
- HypotoniaHPOHP:0001252
- 3 of 13 reported patients
- Speech apraxiaHPOHP:0011098
- 3 of 13 reported patients
- Duane anomalyHPOHP:0009921
- 2 of 13 reported patients · Congenital onset
- Generalized myoclonic-atonic seizureHPOHP:0011170
- 1 of 13 reported patients · Childhood onset
- HypertelorismHPOHP:0000316
- Narrow palpebral fissureHPOHP:0045025
Show the remaining 7
- Periorbital fullnessHPOHP:0000629
- Prominent nasal bridgeHPOHP:0000426
- Smooth philtrumHPOHP:0000319
- SynophrysHPOHP:0000664
- Thin upper lip vermilionHPOHP:0000219
- Wide mouthHPOHP:0000154
- Wide nasal bridgeHPOHP:0000431
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.
- MED13HGNC:22474
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025