X-linked intellectual disability, Shrimpton type

Orpha code: 85324OMIM code: 300709

Definition

An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.

Disease data
Classification

Malformation syndrome

Synonyms
MRXS9
MRXS9
ORPHA code
85324
OMIM code
300709
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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