intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
MONDO:0032883Mondo
Findings
No curated finding names intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism 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
15 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
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- AnxietyHPOHP:0000739
- 4 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 7 reported patients
- ObesityHPOHP:0001513
- 4 of 7 reported patients
- SeizureHPOHP:0001250
- 4 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 6 reported patients
- Tapered fingerHPOHP:0001182
- 3 of 7 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 7 reported patients
Show the remaining 3
- SyndactylyHPOHP:0001159
- 2 of 7 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 7 reported patients
- Abnormal facial shapeHPOHP:0001999
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.
- PHF21AHGNC:24156
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of