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Features include common findings: Epicanthus, Strabismus, Talipes equinovarus, and Short stature and others; and sometimes findings: Absent speech, Cataract, and Increased serum serotonin. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Absent speech, Seizure, Profound intellectual disability |
Phenotype severity distribution: 14 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked intellectual disability, Stocco dos Santos type.
1 publication has been identified in PubMed for X-linked intellectual disability, Stocco dos Santos type. Research spans Basic Science / Preclinical (100%).
Wang Z (2025). [PMID: 40642607](https://pubmed.ncbi.nlm.nih.gov/40642607/). *Genet Res (Camb)*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:44 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked intellectual disability, Stocco dos Santos type
Eyes
2 |
Strabismus, Cataract |
Arms and legs | 2 | Short foot, Small hand |
Bones and joints | 2 | Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis) |
Head and neck | 1 | Microcephaly |
Growth and development | 1 | Short stature |
Digestive system | 1 | Gastroesophageal reflux |
Lungs and breathing | 1 | Recurrent respiratory infections |
Blood and immune system | 1 | Recurrent respiratory infections |
Pregnancy and birth | 1 | Congenital bilateral hip dislocation |