Weiss-Kruszka syndrome
MONDO:0032836Mondo
Findings
No curated finding names Weiss-Kruszka 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
48 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.
- PtosisHPOHP:0000508
- 20 of 24 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- 8 of 24 reported patients
- Frequent (30% to 79% of cases)
- Broad philtrumHPOHP:0000289
- 13 of 24 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 14 of 24 reported patients
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- 11 of 24 reported patients
- Frequent (30% to 79% of cases)
- Exaggerated cupid's bowHPOHP:0002263
- 13 of 24 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 12 of 24 reported patients
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- 12 of 24 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
Show the remaining 36
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Frequent (30% to 79% of cases)
- Prominent nasal tipHPOHP:0005274
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- 11 of 24 reported patients
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- 12 of 24 reported patients
- Anteverted naresHPOHP:0000463
- 11 of 24 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.
- ZNF462HGNC:21684
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
3 names
Resolves to: Weiss-Kruszka syndrome
- Also called
- metopic ridging-ptosis-facial dysmorphism syndromeWSKAZNF462 disorder