Disease: Mental Retardation, X-Linked, Syndromic, Nascimento Type

Name Mental Retardation, X-Linked, Syndromic, Nascimento Type

Synonyms MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30

Classification genetic, neurological

Phenotypes Abnormal hair whorl; Aggressive behavior; Almond-shaped palpebral fissure; Broad face; Broad hallux; Broad neck; Deeply set eye; Depressed nasal bridge; Downturned corners of mouth; Dry skin; Echolalia; Hirsutism; Hypointensity of cerebral white matter on MRI; Increased body weight; Intellectual disability; Low posterior hairline; Macrocephaly; Malar flattening; Micropenis; Midface retrusion; Nail dysplasia; Nail dystrophy; Pes planus; Poor speech; Prominent supraorbital ridges; Regional abnormality of skin; Seizures; Short foot; Short neck; Spotty hypopigmentation; Synophrys; Thin vermilion border; Upslanted palpebral fissure; Wide intermamillary distance; Wide mouth; X-linked recessive inheritance

Associated Genes UBE2A (Withdrawn symbols: HHR6A, RAD6A, UBC2 )

Mouse Orthologs Ube2a

Source OMIM:300860 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter