X-linked intellectual disability-seizures-psoriasis syndrome

Orpha code: 3052OMIM code: 309480

Definition

A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.

Disease data
Classification

Disease

Synonyms
Tranebjaerg-Svejgaard syndrome
Zespół Tranebjaerga i Svejgaarda
ORPHA code
3052
OMIM code
309480
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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