Thakker-Donnai syndrome
MONDO:0009202Mondo
Findings
No curated finding names Thakker-Donnai syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
25 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.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- HemivertebraeHPOHP:0002937
- 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 palpebral fissureHPOHP:0000637
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Webbed neckHPOHP:0000465
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
- Communicating hydrocephalusHPOHP:0001334
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Thakker-Donnai syndrome
- Also called
- Dysmorphism-multiple structural anomalies syndrome