Li-Ghorbani-Weisz-Hubshman syndrome
MONDO:0033547Mondo
Findings
No curated finding names Li-Ghorbani-Weisz-Hubshman syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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 fine motor developmentHPOHP:0010862
- 8 of 8 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- SeizureHPOHP:0001250
- 5 of 9 reported patients
- VentriculomegalyHPOHP:0002119
- 4 of 9 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 3 of 9 reported patients · Infantile onset
- HypermetropiaHPOHP:0000540
- 3 of 9 reported patients
- Low-set earsHPOHP:0000369
- 3 of 9 reported patients
- Periventricular heterotopiaHPOHP:0007165
- 3 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 9 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 9 reported patients
- EpicanthusHPOHP:0000286
- 2 of 9 reported patients
Show the remaining 15
- EsotropiaHPOHP:0000565
- 2 of 9 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 9 reported patients
- Overlapping toeHPOHP:0001845
- 2 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 9 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 9 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 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.
- KAT8HGNC:17933
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Li-Ghorbani-Weisz-Hubshman syndrome
- Also called
- Li-Ghorgani-Weisz-Hubshman syndrome