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Hypospadias-intellectual disability, Goldblatt type syndrome
Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.
ORPHA:2261Classification level: Disorder
- Summary information
- Japanese (2019, pdf)