Kariminejad neurodevelopmental syndrome
MONDO:0975795Mondo
Findings
No curated finding names Kariminejad 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
HPO, annotations 2026-09-02
Features
37 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.
- Abnormal facial shapeHPOHP:0001999
- 1 of 1 reported patient
- Blue scleraeHPOHP:0000592
- 3 of 3 reported patients
- Carious teethHPOHP:0000670
- 3 of 3 reported patients
- Cone-shaped epiphysisHPOHP:0010579
- 1 of 1 reported patient
- Coxa valgaHPOHP:0002673
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Diaphyseal undertubulationHPOHP:0005019
- 1 of 1 reported patient
- Foam cellsHPOHP:0003651
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
Show the remaining 25
- Highly arched eyebrowHPOHP:0002553
- 3 of 3 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Low hanging columellaHPOHP:0009765
- 3 of 3 reported patients
- MicrodontiaHPOHP:0000691
- 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.
- RBSNHGNC:20759
- Strong · PanelApp Australia · Autosomal recessive · 2025