Rafiq syndrome
Findings
No curated finding names Rafiq syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013624), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
41 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.
- Global developmental delayHPOHP:0001263
- 24 of 24 reported patients
- Intellectual disabilityHPOHP:0001249
- 16 of 16 reported patients
- MacrotiaHPOHP:0000400
- 7 of 7 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 12 of 12 reported patients
- Motor delayHPOHP:0001270
- 7 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 14 of 17 reported patients
- HypotoniaHPOHP:0001252
Show the remaining 29
- HypertelorismHPOHP:0000316
- 11 of 17 reported patients
- Bulbous noseHPOHP:0000414
- 7 of 12 reported patients
- Sparse lateral eyebrowHPOHP:0005338
- 7 of 12 reported patients
- Pointed chinHPOHP:0000307
- 5 of 9 reported patients
- Low-set earsHPOHP:0000369
- 8 of 15 reported patients
- Inverted nipplesHPOHP:0003186
- 9 of 19 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.
- MAN1B1HGNC:6823
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: Rafiq syndrome
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1CDG2Uintellectual disability, autosomal recessive 15MAN1B1 autosomal recessive non-syndromic intellectual disabilitymental retardation, autosomal recessive 15mental retardation, autosomal recessive type 15RAFQS