macrocephaly-autism syndrome
Findings
No curated finding names macrocephaly-autism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.
Definition from the Mondo Disease Ontology (MONDO:0011537), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
40 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.
- AutismHPO · MondoHP:0000717
- 3 of 3 reported patients
- Postnatal macrocephalyHPOHP:0005490
- 3 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
Show the remaining 28
- HypotoniaHPOHP:0001252
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
- Intestinal polyposisHPOHP:0200008
- Occasional (5% to 29% of cases)
- Multiple lipomasHPOHP:0001012
- Occasional (5% to 29% of cases)
- Numerous neviHPOHP:0001054
- Occasional (5% to 29% of cases)
- Coarse hairHPOHP:0002208
- 1 of 3 reported patients
- Cutis laxaHPOHP:0000973
- 1 of 3 reported patients
Genes
2 genes
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.
Where it sits
Other names
1 name
Resolves to: macrocephaly-autism syndrome
- Also called
- macrocephaly-intellectual disability-autism syndrome