Cataract - intellectual deficit - hypogonadism (Q94133): Difference between revisions
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Esta síndrome é caracterizada pela associação de déficit intelectual, catarata congênita e hipogonadismo hipogonadotrófico. Até o momento, menos de 20 casos foram descritos na literatura. Além das três características principais da síndrome, outras anomalias foram relatadas em alguns dos pacientes afetados, incluindo baixa estatura, anormalidades digitais menores, microcefalia, cardiomiopatia, insuficiência cardíaca e dismorfismo facial leve (micrognatia, hipoplasia da maxila, linha capilar posterior baixa e ouvidos grandes). A transmissão é autossômica recessiva e mutações no gene RAB3GAP2 foram identificadas em alguns pacientes. | |||
| description / en | description / en | ||
This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. 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). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients. | |||
Revision as of 09:15, 16 August 2026
This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. 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). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_702011756 |
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| English | Cataract - intellectual deficit - hypogonadism |
This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. 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). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients. |
