Wieacker-Wolff syndrome, female-restricted
MONDO:0026762Mondo
Findings
No curated finding names Wieacker-Wolff syndrome, female-restricted yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
49 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.
- Posteriorly rotated earsHPOHP:0000358
- 20 of 20 reported patients
- Absent speechHPOHP:0001344
- Achilles tendon contractureHPOHP:0001771
- Anteverted naresHPOHP:0000463
- BrachycephalyHPOHP:0000248
- Brain atrophyHPOHP:0012444
- Cleft palateHPOHP:0000175
- Deeply set eyeHPOHP:0000490
- Delayed ability to walkHPOHP:0031936
- Delayed CNS myelinationHPOHP:0002188
- Distal muscle weaknessHPOHP:0002460
- Downturned corners of mouthHPOHP:0002714
Show the remaining 37
- DroolingHPOHP:0002307
- DysarthriaHPOHP:0001260
- DysphagiaHPOHP:0002015
- Facial palsyHPOHP:0010628
- Feeding difficultiesHPOHP:0011968
- Fetal akinesia sequenceHPOHP:0001989
- Flexion contractureHPOHP:0001371
- Generalized hypotoniaHPOHP:0001290
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.
- ZC4H2HGNC:24931
- Definitive · Ambry Genetics · X-linked · 2023
- Definitive · G2P · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Wieacker-Wolff syndrome, female-restricted
- Also called
- Wieacker-Wolff syndrome, female-restricted, X-linked dominant