Keppen-Lubinsky syndrome
MONDO:0013572Mondo
Findings
No curated finding names Keppen-Lubinsky syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
49 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.
- Congenital generalized lipodystrophyHPOHP:0009059
- Obligate (100% of cases)
- Decreased serum leptinHPOHP:0003292
- 1 of 1 reported patient
- Progeroid facial appearanceHPOHP:0005328
- Obligate (100% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Open mouthHPOHP:0000194
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Premature skin wrinklingHPOHP:0100678
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
Show the remaining 37
- Lack of facial subcutaneous fatHPOHP:0005320
- 2 of 3 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 2 of 3 reported patients
- ProptosisHPOHP:0000520
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormal forehead morphologyHPOHP:0000290
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- Abnormally large globeHPOHP:0001090
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- KCNJ6HGNC:6267
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MYH6HGNC:7576
- Moderate · Illumina · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: Keppen-Lubinsky syndrome
- Also called
- generalised lipodystrophy-progeroid features-severe intellectual disability syndromegeneralized lipodystrophy-progeroid features-severe intellectual disability syndrome