Cohen syndrome
Findings
No curated finding names Cohen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Definition from the Mondo Disease Ontology (MONDO:0008999), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
78 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.
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 66
- Narrow footHPOHP:0001786
- 1 of 1 reported patient
- Narrow palateHPOHP:0000189
- 1 of 1 reported patient
- Narrow palmHPOHP:0004283
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Pigmentary retinopathyHPOHP:0000580
- 1 of 1 reported patient
- Prominent eyelashesHPOHP:0011231
- 2 of 2 reported patients
- Short philtrumHPOHP:0000322
- 1 of 1 reported patient
- Very frequent (80% to 99% 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.
- VPS13BHGNC:2183
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Cohen syndrome
- Also called
- cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness