X-linked intellectual disability, Cabezas type
Findings
No curated finding names X-linked intellectual disability, Cabezas type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0010306), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
58 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.
- Delayed speech and language developmentHPOHP:0000750
- 18 of 18 reported patients
- Intellectual disabilityHPOHP:0001249
- 18 of 18 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Abnormal earlobe morphologyHPOHP:0000363
- Very frequent (80% to 99% of cases)
- Abnormal hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPO
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.
- CUL4BHGNC:2555
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: X-linked intellectual disability, Cabezas type
- Also called
- Cabezas syndromeCabezas syndrome; syndromic X-linked intellectual disability 15intellectual disability, X-linked, syndromic 15 (Cabezas type)intellectual disability, X-linked, with short staturemental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessivemental retardation, X-linked, with short statureMRSSMRXS15MRXSCsyndromic X-linked intellectual disability Cabezas typeX-linked intellectual disability with short statureX-linked intellectual disability with short stature, hypogonadism, and abnormal gait