El Hayek-Chahrour neurodevelopmental disorder
MONDO:0970951Mondo
Findings
No curated finding names El Hayek-Chahrour neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- Autistic behaviorHPOHP:0000729
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 9 reported patients
- SeizureHPOHP:0001250
- 8 of 9 reported patients
- Absent speechHPOHP:0001344
- 7 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 9 reported patients
- HypotoniaHPOHP:0001252
- 6 of 9 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 5 reported patients
- AtaxiaHPOHP:0001251
- 2 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 9 reported patients
- HypertelorismHPOHP:0000316
- 2 of 9 reported patients
- Low-set earsHPOHP:0000369
- 2 of 9 reported patients
Show the remaining 22
- MicrocephalyHPOHP:0000252
- 2 of 9 reported patients
- StrabismusHPOHP:0000486
- 2 of 9 reported patients
- Hippocampal atrophyHPOHP:0410170
- 1 of 5 reported patients
- Parietal cortical atrophyHPOHP:0012104
- 1 of 5 reported patients
- Periventricular leukomalaciaHPOHP:0006970
- 1 of 5 reported patients
- 2-3 toe syndactylyHPOHP:0004691
- 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.
- KDM5AHGNC:9886
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024