severe neurodegenerative syndrome with lipodystrophy
MONDO:0014402Mondo
Findings
No curated finding names severe neurodegenerative syndrome with lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Progressive encephalopathyHPOHP:0002448
- Obligate (100% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Generalized lipodystrophyHPOHP:0009064
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- Very frequent (80% to 99% of cases)
- Progressive psychomotor deteriorationHPOHP:0007272
- Very frequent (80% to 99% of cases)
- Reduced intraabdominal adipose tissueHPOHP:0025128
- Very frequent (80% to 99% of cases)
- Reduced subcutaneous adipose tissueHPOHP:0003758
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
Show the remaining 25
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Hepatic steatosisHPOHP:0001397
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Frequent (30% to 79% of cases)
- IncoordinationHPOHP:0002311
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- 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.
- BSCL2HGNC:15832
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
1 name
Resolves to: severe neurodegenerative syndrome with lipodystrophy
- Also called
- severe neurodegenerative syndrome due to BSCL2 deficiency