An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Comprehensive, easy-to-understand information about this condition
How we create this content →Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease
CellTrans Inc.
Other
Diabetes Research Institute & Cell Transplant Center, Univ of Miami
Other
Hospital of the University of Pennsylvania (Penn Medicine)
Other
University of California, San Francico
Other
University of Chicago
Other
University of Minnesota
Other