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syndromic X-linked intellectual disability Lubs type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge.
Disease Ontology Description A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Mondo Term and Equivalent IDs
MONDO:0010283:  syndromic X-linked intellectual disability Lubs type
GARD:0009781: 
MESH:C537723: 
NCIT:C126747: 
Orphanet:1762: 
SCTID:702816000: 
UMLS:C1846058: