Details of Disease

General Information of Disease (ID: DISMADKV)

• Disease Name: X-linked intellectual disability, Cabezas type
• Synonyms: intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait; mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait; mental retardation, X-linked, syndromic, Cabezas type; Cul4B-related X-linked intellectual disability; mental retardation, X-linked, syndromic 15; intellectual disability, X-linked, syndromic 15; intellectual disability, X-linked, syndromic, Cabezas type; Cabezas type of X-linked syndromic intellectual disability; Cabezas syndrome; syndromic X-linked mental retardation 15; X-linked intellectual disability, Cabezas type; MRXS15; Cabezas syndrome; syndromic X-linked intellectual disability 15; mental retardation, X-linked, with short stature; Cabezas syndrome; mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive; syndromic X-linked intellectual disability Cabezas type; X-linked intellectual disability with short stature; MRXSC; intellectual disability, X-linked, with short stature; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; intellectual disability, X-linked, syndromic 15 (Cabezas type); X-linked mental retardation with short stature; X-linked mental retardation with short stature, hypogonadism, and abnormal gait; X-linked intellectual disability with short stature, hypogonadism, and abnormal gait
• 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.|OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISMADKV: X-linked intellectual disability, Cabezas type
• Disease Identifiers:
  MONDO ID: MONDO_0010306
  MESH ID: C567069
  UMLS CUI: C1845861
  OMIM ID: 300354
  MedGen ID: 337334
  Orphanet ID: 85293
  SNOMED CT ID: 719811001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CUL4B	OT2QX4DO	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.