X-linked intellectual disability, Cantagrel type
Findings
No curated finding names X-linked intellectual disability, Cantagrel type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
Definition from the Mondo Disease Ontology (MONDO:0010483), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
69 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient · Infantile onset
- 3 of 7 reported patients
- 2 of 2 reported patients
Show the remaining 57
- Short digitHPOHP:0011927
- 1 of 1 reported patient
- Single transverse palmar creaseHPOHP:0000954
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 7 of 7 reported patients
- Thin vermilion borderHPOHP:0000233
- 2 of 2 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 1 reported patient
- Underdeveloped nasal alaeHPOHP:0000430
- 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.
- NEXMIFHGNC:29433
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
8 names
Resolves to: X-linked intellectual disability, Cantagrel type
- Also called
- intellectual disability, X-linked 98intellectual disability, X-linked type 98mental retardation, X-linked 98mental retardation, X-linked type 98MRX98X-linked intellectual developmental disorder-98X-linked intellectual disability-98XLID98