Lessel-Kreienkamp syndrome
MONDO:0030897Mondo
Findings
No curated finding names Lessel-Kreienkamp 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
34 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.
- Delayed speech and language developmentHPOHP:0000750
- 21 of 21 reported patients
- Intellectual disabilityHPOHP:0001249
- 21 of 21 reported patients
- Motor delayHPOHP:0001270
- 21 of 21 reported patients
- Receptive language delayHPOHP:0010863
- 13 of 13 reported patients
- Feeding difficultiesHPOHP:0011968
- 12 of 19 reported patients · Neonatal onset
- HypotoniaHPOHP:0001252
- 12 of 21 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 16 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 8 of 15 reported patients
- EpicanthusHPOHP:0000286
- 11 of 21 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 11 of 21 reported patients
- SeizureHPOHP:0001250
- 8 of 18 reported patients
- Deeply set eyeHPOHP:0000490
- 9 of 21 reported patients
Show the remaining 22
- Frontal bossingHPOHP:0002007
- 9 of 21 reported patients
- Open mouthHPOHP:0000194
- 9 of 21 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 7 of 19 reported patients
- StrabismusHPOHP:0000486
- 7 of 21 reported patients
- Dental malocclusionHPOHP:0000689
- 6 of 21 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 6 of 21 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.
- AGO2HGNC:3263
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Lessel-Kreienkamp syndrome
- Also called
- LESKRES