Phelan-McDermid syndrome
MONDO:0011652Mondo
Findings
No curated finding names Phelan-McDermid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Sporadic
HPO, annotations 2026-09-02
Features
84 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
- 13 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 23 of 23 reported patients
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- 21 of 23 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- Very frequent (80% to 99% of cases)
- BruxismHPOHP:0003763
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- Impaired pain sensationHPOHP:0007328
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- 9 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- 9 of 13 reported patients
- Frequent (30% to 79% of cases)
- 2-3 toe syndactylyHPOHP:0004691
- Frequent (30% to 79% of cases)
Show the remaining 72
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- 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.
- SHANK3HGNC:14294
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
2 names
Resolves to: Phelan-McDermid syndrome
- Also called
- Phelan McDermid syndromePHMDS