Alzahrani-Kuwahara syndrome
MONDO:0859136Mondo
Findings
No curated finding names Alzahrani-Kuwahara syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
35 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.
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 9 reported patients
- Short statureHPOHP:0004322
- 6 of 9 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 3 of 5 reported patients
- HypospadiasHPOHP:0000047
- 2 of 5 reported patients
- CataractHPOHP:0000518
- 3 of 8 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 9 reported patients
- Tip-toe gaitHPOHP:0030051
- 3 of 9 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 9 reported patients
- StrabismusHPOHP:0000486
- 2 of 8 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 9 reported patients
- Dry skinHPOHP:0000958
- 2 of 9 reported patients
Show the remaining 23
- Hyperpigmentation of the skinHPOHP:0000953
- 2 of 9 reported patients
- MacrotiaHPOHP:0000400
- 2 of 9 reported patients
- Cavum septum pellucidumHPOHP:0002389
- 1 of 5 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 6 reported patients
- AstigmatismHPOHP:0000483
- 1 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 9 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.
- SMG8HGNC:25551
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023