ZTTK syndrome
MONDO:0014936Mondo
Findings
No curated finding names ZTTK 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
133 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.
- Aortic regurgitationHPOHP:0001659
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Curly hairHPOHP:0002212
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Delayed ability to crawlHPOHP:0033128
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 7 of 7 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hyperextensible skinHPOHP:0000974
- 1 of 1 reported patient
Show the remaining 121
- Hypoplasia of the maxillaHPOHP:0000327
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 20 of 20 reported patients
- Obligate (100% of cases)
- Intestinal atresiaHPOHP:0011100
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient
- PolyuriaHPOHP:0000103
- 1 of 1 reported patient
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.
- SONHGNC:11183
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: ZTTK syndrome
- Also called
- TOKIMSTokita-Kim syndrome