intellectual disability-severe speech delay-mild dysmorphism syndrome
Findings
No curated finding names intellectual disability-severe speech delay-mild dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant form of syndromic intellectual disability caused by mutation in the FOXP1 gene. It is characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads and delayed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family).
Definition from the Mondo Disease Ontology (MONDO:0013352), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
79 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.
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Compulsive behaviorsHPOHP:0000722
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed CNS myelination
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.
- FOXP1HGNC:3823
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: intellectual disability-severe speech delay-mild dysmorphism syndrome
- Also called
- FOXP1 haploinsufficiencyFOXP1 syndromeFOXP1-related neurodevelopmental disorder