macrocephaly-developmental delay syndrome
Findings
No curated finding names macrocephaly-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.
Definition from the Mondo Disease Ontology (MONDO:0014289), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 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.
- Frontal bossingHPOHP:0002007
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Prominent foreheadHPOHP:0011220
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- RetrognathiaHPOHP:0000278
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 10 of 11 reported patients
- Frequent (30% to 79% of cases)
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.
- KPTNHGNC:6404
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: macrocephaly-developmental delay syndrome
- Also called
- intellectual disability, autosomal recessive type 41mental retardation, autosomal recessive type 41