Disease: Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb

Name Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb

Synonyms NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME , NF1 MICRODELETION SYNDROME , VAN ASPEREN SYNDROME

Classification bone, circulatory, developmental, eye, genetic, neoplastic, neurological, renal, skin

Phenotypes Abnormal heart morphology; Abnormality of cardiovascular system morphology; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Axillary freckling; Bone cyst; Broad neck; Cafe-au-lait spot; Coarse facial features; Cognitive impairment; Delayed speech and language development; Facial asymmetry; Focal T2 hyperintense basal ganglia lesion; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertelorism; Inguinal freckling; Intellectual disability; Joint hypermobility; Large hands; Lisch nodules; Long foot; Low-set ears; Macrocephaly; Muscular hypotonia; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Pectus excavatum; Pes cavus; Plexiform neurofibroma; Scoliosis; Seizure; Specific learning disability; Spinal neurofibromas; Sporadic; Strabismus; Subcutaneous neurofibromas; Tall stature

Associated Genes -

Mouse Orthologs -

Source OMIM:613675 (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

No mouse models associated with OMIM:613675 by orthology to a human gene.

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