Alfadhel syndrome
MONDO:0958001Mondo
Findings
No curated finding names Alfadhel 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
HPO, annotations 2026-09-02
Features
28 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.
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 5 of 5 reported patients
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Expressive language delayHPOHP:0002474
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 3 of 3 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
Show the remaining 16
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Nasal flaringHPOHP:0030863
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 4 of 4 reported patients
- Short philtrumHPOHP:0000322
- 2 of 2 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.
- RAP1GDS1HGNC:9859
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of