Search for a rare disease
Other search option(s)
X-linked intellectual disability, Golabi-Ito-Hall type
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.
ORPHA:93947Classification level: Subtype of disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been reported in only one family, with three affected patients.
Moderate to severe intellectual deficiency (IQ<50) is seen in all cases as are marked facial characteristics (long narrow face with upslanting palpebral fissures). Spastic diplegia is common. Golabi-Ito-Hall syndrome shows atrial septal defects and severe growth restriction (head circumference and length) but unlike other syndromes in the Renpenning group, small testes are not observed.
It is caused by a missense mutation in the PQBP1 gene on exon 3 that leads to deregulated splicing that alters an amino acid in the gene's WW domain.
Golabi-Ito-Hall syndrome follows an X-linked recessive pattern of inheritance. Genetic testing is possible to identify carrier females and to inform them of the risk of passing on the gene to their offspring.
- Summary information
- Polski (2012, pdf)