Au-Kline syndrome
MONDO:0014700Mondo
Findings
No curated finding names Au-Kline 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
- Antenatal onset
HPO, annotations 2026-09-02
Features
125 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Sacral dimpleHPOHP:0000960
- 2 of 2 reported patients
- Thickened nuchal skin foldHPOHP:0000474
- 2 of 2 reported patients
- Vertebral segmentation defectHPOHP:0003422
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Long palpebral fissureHPOHP:0000637
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- BruxismHPOHP:0003763
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
Show the remaining 113
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Exaggerated median tongue furrowHPOHP:0002711
- Frequent (30% to 79% of cases)
- Gray matter heterotopiaHPOHP:0002282
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
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.
- HNRNPKHGNC:5044
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Au-Kline syndrome
- Also called
- AUKShydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disabilityhydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardationneurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutationOkamoto syndrome