Liang-Wang syndrome
MONDO:0032886Mondo
Findings
No curated finding names Liang-Wang 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
- Infantile onset
HPO, annotations 2026-09-02
Features
24 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.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 5 reported patients
- HypertelorismHPOHP:0000316
- 4 of 5 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 4 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 5 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 8 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 2 of 4 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 9 reported patients
- Wide mouthHPOHP:0000154
- 2 of 5 reported patients
- AtaxiaHPOHP:0001251
- 3 of 9 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 9 reported patients
- DiastemaHPOHP:0000699
- 1 of 3 reported patients
Show the remaining 12
- Gingival overgrowthHPOHP:0000212
- 3 of 9 reported patients
- Macrodontia of permanent maxillary central incisorHPOHP:0000675
- 1 of 3 reported patients
- MacroglossiaHPOHP:0000158
- 3 of 9 reported patients
- StrabismusHPOHP:0000486
- 3 of 9 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 9 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.
- KCNMA1HGNC:6284
- Strong · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of