OBO ID: DOID:0060802 |
Term Name: | syndromic X-linked intellectual disability Snyder type | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (2) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0060802 ) |
OTHER syndromic X-linked intellectual disability Snyder type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.