macrocephaly, acquired, with impaired intellectual development
MONDO:0032658Mondo
Findings
No curated finding names macrocephaly, acquired, with impaired intellectual development 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
24 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
- 18 of 18 reported patients
- Intellectual disabilityHPOHP:0001249
- 18 of 18 reported patients
- MacrocephalyHPOHP:0000256
- 13 of 16 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 11 of 15 reported patients
- Motor delayHPOHP:0001270
- 11 of 16 reported patients
- HypotoniaHPOHP:0001252
- 11 of 17 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 11 reported patients
- AutismHPOHP:0000717
- 4 of 15 reported patients
- Sparse eyebrowHPOHP:0045075
- 4 of 17 reported patients
- AnxietyHPOHP:0000739
- 3 of 15 reported patients
- Thin corpus callosumHPOHP:0033725
- 2 of 11 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 11 reported patients
Show the remaining 12
- Unilateral cryptorchidismHPOHP:0012741
- 2 of 15 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 18 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 15 reported patients
- ImpulsivityHPOHP:0100710
- 1 of 15 reported patients
- Probst bundlesHPOHP:0034054
- 1 of 15 reported patients
- SeizureHPOHP:0001250
- 0 of 18 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.
- NFIBHGNC:7785
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · G2P · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of