intellectual disability, X-linked 49
MONDO:0010250Mondo
Findings
No curated finding names intellectual disability, X-linked 49 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
48 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.
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Show the remaining 36
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Occasional (5% to 29% of cases)
- Bipolar affective disorderHPOHP:0007302
- Occasional (5% to 29% of cases)
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.
- CLCN4HGNC:2022
- Strong · Ambry Genetics · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · G2P · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 49
- Also called
- CLCN4-related X-linked intellectual disability syndromeintellectual disability, X-linked 15mental retardation, X-linked 15MRX49Raynaud-Claes syndrome, X-linked dominant