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Cataract-intellectual disability-hypogonadism syndrome
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
ORPHA:1387Classification level: Disorder
Less than 20 cases have been described in the literature so far.
Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).
Mutations in the RAB3GAP2 gene have been identified in some patients.
Transmission is autosomal recessive.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Disease review articles
- Review article
- Français (2009, pdf) - Ann Endocrinol
- Clinical genetics review
- English (2018) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.