X-linked intellectual disability-seizures-psoriasis syndrome

Orpha code: 3052OMIM code: 309480

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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