Al-Raqad syndrome
MONDO:0014648Mondo
Findings
No curated finding names Al-Raqad 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
- Congenital onset
HPO, annotations 2026-09-02
Features
22 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.
- Atrial septal defectHPOHP:0001631
- 3 of 3 reported patients
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Chronic constipationHPOHP:0012450
- 3 of 3 reported patients
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Flat faceHPOHP:0012368
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients · Congenital onset
- Joint hypermobilityHPOHP:0001382
- 3 of 3 reported patients
Show the remaining 10
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Narrow mouthHPOHP:0000160
- 3 of 3 reported patients
- Sandal gapHPOHP:0001852
- 3 of 3 reported patients
- Short noseHPOHP:0003196
- 3 of 3 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 3 of 3 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.
- DCPSHGNC:29812
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020