Li-Takada-Miyake syndrome
MONDO:0978303Mondo
Findings
No curated finding names Li-Takada-Miyake syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
61 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Choroid thickeningHPOHP:6001181
- 1 of 1 reported patient
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- EnuresisHPOHP:0000805
- 1 of 1 reported patient
- Everted lower lip vermilionHPOHP:0000232
- 1 of 1 reported patient
- Everted upper lip vermilionHPOHP:0010803
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 3 of 3 reported patients
Show the remaining 49
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Hypermobility of interphalangeal jointsHPOHP:0005620
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- ImpulsivityHPOHP:0100710
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients