Jeffries-Lakhani neurodevelopmental syndrome
MONDO:0958329Mondo
Findings
No curated finding names Jeffries-Lakhani neurodevelopmental 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
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
106 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.
- ArrhythmiaHPOHP:0011675
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 18 of 18 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 18 of 18 reported patients
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 17 of 17 reported patients
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 17 of 18 reported patients
Show the remaining 94
- Delayed gross motor developmentHPOHP:0002194
- 16 of 18 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 8 of 18 reported patients
- Myoclonic seizureHPOHP:0032794
- 8 of 18 reported patients
- Tube feedingHPOHP:0033454
- 8 of 18 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 6 of 18 reported patients
- Inability to walkHPOHP:0002540
- 6 of 18 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.
- CRELD1HGNC:14630
- Moderate · G2P · Autosomal recessive · 2025