Hypospadias-intellectual disability, Goldblatt type syndrome

Orpha code: 2261OMIM code: 241760

Definicja

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 microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Goldblatt-Wallis syndrome
Zespół Goldblatta i Wallisa
Kod ORPHA
2261
Kod OMIM
241760
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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