Karayol-Borroto-Haghshenas neurodevelopmental syndrome
MONDO:0975836Mondo
Findings
No curated finding names Karayol-Borroto-Haghshenas neurodevelopmental 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
- Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
122 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.
- Age-inappropriate oppositional behaviorHPOHP:0010865
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 2 of 2 reported patients
- Atopic dermatitisHPOHP:0001047
- 2 of 2 reported patients
- AutismHPOHP:0000717
- 4 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Broad philtrumHPOHP:0000289
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
Show the remaining 110
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DroolingHPOHP:0002307
- 1 of 1 reported patient
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.
- MSL2HGNC:25544
- Definitive · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025