intellectual developmental disorder with autistic features and language delay, with or without seizures
MONDO:0030051Mondo
Findings
No curated finding names intellectual developmental disorder with autistic features and language delay, with or without 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
18 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
- 19 of 20 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 18 of 20 reported patients · Childhood onset
- Autistic behaviorHPOHP:0000729
- 15 of 20 reported patients
- Motor delayHPOHP:0001270
- 13 of 19 reported patients · Childhood onset
- Motor stereotypyHPOHP:0000733
- 13 of 19 reported patients
- Chronic constipationHPOHP:0012450
- 9 of 15 reported patients
- SeizureHPOHP:0001250
- 11 of 20 reported patients
- Generalized hypotoniaHPOHP:0001290
- 5 of 13 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 13 reported patients
- Spastic ataxiaHPOHP:0002497
- 5 of 13 reported patients
- AnxietyHPOHP:0000739
- 4 of 12 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 9 reported patients
Show the remaining 6
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 14 reported patients
- CraniosynostosisHPOHP:0001363
- 3 of 14 reported patients · Congenital onset
- Developmental regressionHPOHP:0002376
- 2 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 18 reported patients
- ScoliosisHPOHP:0002650
- Widely spaced teethHPOHP:0000687
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.
- TANC2HGNC:30212
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: intellectual developmental disorder with autistic features and language delay, with or without seizures
- Also called
- IDDALDS