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Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
Features include very common findings: Macroglossia, Microcephaly, Narrow face, and Long face and others; and common findings: Epicanthus, Spasticity, Spastic diplegia, and Atrial septal defect and others. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 4 | Microcephaly, Narrow face, Long face |
Phenotype severity distribution: 11 very common features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 5:20 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked intellectual disability, Golabi-Ito-hall type
Brain and nerves
4 |
Intellectual disability, Seizure, Spasticity |
Growth and development | 2 | Growth delay, Short stature |
Heart and blood vessels | 1 | Atrial septal defect |
Skin | 1 | Nail dystrophy |