KINSSHIP syndrome
Findings
No curated finding names KINSSHIP syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.
Definition from the Mondo Disease Ontology (MONDO:0851095), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
61 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.
- Global developmental delayHPOHP:0001263
- 18 of 18 reported patients
- Intellectual disabilityHPOHP:0001249
- 18 of 18 reported patients
- Brain atrophyHPOHP:0012444
- 13 of 15 reported patients
- VentriculomegalyHPOHP:0002119
- 13 of 15 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 14 of 18 reported patients
- Failure to thriveHPOHP:0001508
- 14 of 18 reported patients
- Horseshoe kidneyHPO
Show the remaining 49
- MicrocephalyHPOHP:0000252
- 11 of 18 reported patients
- Chronic constipationHPOHP:0012450
- 10 of 18 reported patients
- Low hanging columellaHPOHP:0009765
- 10 of 18 reported patients
- SynophrysHPOHP:0000664
- 10 of 18 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 9 of 18 reported patients
- Primary microcephalyHPOHP:0011451
- 9 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.
- AFF3HGNC:6473
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025