X-linked intellectual disability, Seemanova type

Definition

X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.

Disease data

Classification

Disease

ORPHA code

85323

OMIM code

ICD10 code

Q87.8

ICD11 code

*Soruce