megalencephaly-severe kyphoscoliosis-overgrowth syndrome
MONDO:0018710Mondo
Findings
No curated finding names megalencephaly-severe kyphoscoliosis-overgrowth syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
54 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.
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Broad eyebrowHPOHP:0011229
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Long faceHPOHP:0000276
- Very frequent (80% to 99% of cases)
- OvergrowthHPOHP:0001548
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
Show the remaining 42
- Disproportionate tall statureHPOHP:0001519
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 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.
- HERC1HGNC:4867
- Supportive · Orphanet · Autosomal recessive · 2021