Zaki syndrome
MONDO:0859209Mondo
Findings
No curated finding names Zaki 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 · Infantile onset
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.
- Cupped earHPOHP:0000378
- 8 of 8 reported patients
- High palateHPOHP:0000218
- 8 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 9 of 9 reported patients
- Short philtrumHPOHP:0000322
- 8 of 8 reported patients
- Sparse scalp hairHPOHP:0002209
- 8 of 8 reported patients
- Wide mouthHPOHP:0000154
- 8 of 8 reported patients
- Wide noseHPOHP:0000445
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 10 reported patients
- Wide nasal bridgeHPOHP:0000431
- 6 of 8 reported patients
- Toe syndactylyHPOHP:0001770
- 5 of 7 reported patients
- MicrognathiaHPOHP:0000347
- 6 of 9 reported patients
- Short statureHPOHP:0004322
- 6 of 9 reported patients
Show the remaining 37
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 5 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 6 of 10 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 5 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 4 of 8 reported patients
- Broad distal phalanx of fingerHPOHP:0009836
- 4 of 9 reported patients
- Dilated fourth ventricleHPOHP:0002198
- 2 of 5 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.
- WLSHGNC:30238
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of