intellectual developmental disorder 60 with seizures
MONDO:0032823Mondo
Findings
No curated finding names intellectual developmental disorder 60 with seizures 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.
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 3 of 4 reported patients
- Truncal ataxiaHPOHP:0002078
- 3 of 4 reported patients
- Absence seizure with eyelid myocloniaHPOHP:0011149
- 2 of 4 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 4 reported patients
- Atypical absence seizureHPOHP:0007270
- 2 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 4 reported patients
- EEG with spike-wave complexesHPOHP:0010850
- 2 of 4 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- ChoreaHPOHP:0002072
- 1 of 4 reported patients
Show the remaining 7
- EEG with polyspike wave complexesHPOHP:0002392
- 1 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 4 reported patients
- Generalized myoclonic-atonic seizureHPOHP:0011170
- 1 of 4 reported patients
- Hyperplasia of the maxillaHPOHP:0430028
- 1 of 4 reported patients
- MyoclonusHPOHP:0001336
- 1 of 4 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 1 of 4 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.
- AP2M1HGNC:564
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2024